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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
Massive Parallel Sequencing, supplied by Complete Genomics Inc, used in various techniques. Bioz Stars score: 99/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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fragment libraries for massively parallel sequencing  (Illumina Inc)
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
Fragment Libraries For Massively Parallel Sequencing, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
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massive parallel sequencing nextera rapid capture  (Nextera AS)
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
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massively parallel sequencing machines nextseq500  (Illumina Inc)
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
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massively parallel sequencing (mps)  (Illumina Inc)
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Illumina Inc massively parallel sequencing (mps)
Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
Massively Parallel Sequencing (Mps), supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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massively parallel sequencing (mps) - by Bioz Stars, 2026-04
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massively parallel sequencing  (Illumina Inc)
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Illumina Inc massively parallel sequencing
Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
Massively Parallel Sequencing, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/result/massively parallel sequencing/product/Illumina Inc
Average 90 stars, based on 1 article reviews
massively parallel sequencing - by Bioz Stars, 2026-04
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massive parallel dna sequencing  (Illumina Inc)
90
Illumina Inc massive parallel dna sequencing
Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
Massive Parallel Dna Sequencing, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

Journal: Sultan Qaboos University Medical Journal

Article Title: Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

doi: 10.18295/2075-0528.2963

Figure Lengend Snippet: Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

Article Snippet: Massive parallel sequencing was conducted on the DNBSEQ-G400 platform (MGI).

Techniques: Variant Assay, Sequencing, Functional Assay, Activation Assay