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massive parallel amplicon sequencing  (Novogene)

 
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    Novogene massive parallel amplicon sequencing
    Massive Parallel Amplicon Sequencing, supplied by Novogene, 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/massive parallel amplicon sequencing/product/Novogene
    Average 90 stars, based on 1 article reviews
    massive parallel amplicon sequencing - by Bioz Stars, 2026-04
    90/100 stars

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    Image Search Results


    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

    PPM1D variants associated with Jansen-de Vries syndrome reported in the literature, in this case (red square), and in the ClinVar database to date ( https://www.ncbi.nlm.nih.gov/clinvar/ ). [1] ; [2] ; [3] ; [4] ; [5] ; [6] ; [7] ; [8] ; [9] ; [10] ; [11] ; [12] ; [13] ClinVar . Reference sequence NM_003620.4 .

    Journal: Frontiers in Genetics

    Article Title: Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective

    doi: 10.3389/fgene.2025.1601752

    Figure Lengend Snippet: PPM1D variants associated with Jansen-de Vries syndrome reported in the literature, in this case (red square), and in the ClinVar database to date ( https://www.ncbi.nlm.nih.gov/clinvar/ ). [1] ; [2] ; [3] ; [4] ; [5] ; [6] ; [7] ; [8] ; [9] ; [10] ; [11] ; [12] ; [13] ClinVar . Reference sequence NM_003620.4 .

    Article Snippet: Subsequent to this, we undertook massive parallel sequencing on a NextSeq550 instrument (Illumina).

    Techniques: Sequencing