alamut™ visual plus (Sophia Genetics)
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97
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Sophia Genetics
alamut™ visual plus
Alamut™ Visual Plus, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1558 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/alamut/Alamut%E2%84%A2+Visual+Plus/custom%40alamut-visual-plus%4042376640
Average 97 stars, based on 1558 article reviews
Alamut™ Visual Plus, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1558 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/alamut/Alamut%E2%84%A2+Visual+Plus/custom%40alamut-visual-plus%4042376640
Average 97 stars, based on 1558 article reviews
alamut™ visual plus - by Bioz Stars,
2026-09
97/100 stars
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other:Article Title: The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts Article Snippet: The canonical mRNA transcripts and the locations of the final nucleotide beyond which variants do not result in nonsense mediated decay were obtained from Article Title: Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form. Article Snippet: Conservation of affected amino acids was found in Article Title: Clinical immunology in chromatinopathies: a scoping review Article Snippet: In cases where the consequence of genetic variants was not mentioned or unclear, this was further evaluated by use of ClinVar ( www.ncbi.nlm.nih.gov/clinvar/ ) and Article Title: Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies Article Snippet: The canonical mRNA (MANE transcripts) and the locations of the cut-offs were obtained from Article Title: Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies. Article Snippet: Background and hypothesis.. The population frequency of AD polycystic kidney disease (ADPKD) has not been known with certainty.. We hypothesized that more accurate population frequencies for typical ( PKD1 , PKD2 ) and atypical ( GANAB , ALG9 , DNAJB11 ALG5 , IFT140 , NEK8 ) ADPKD were possible using a computational approach. Article Title: Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing. Article Snippet: Variants within genes in the current gene panel (HearSeq) as well as in mtDNA were interpreted in Scout, with support from DNA Sequencing:Article Title: Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools. Article Snippet: .. Jo urn al Pr e-p roo f 10 Splicing affecting variants predicted in Alamut can be experimentally validated but clinically relevant variants are also missed Most of the variants (n=182/202, 90%) were Article Title: Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Article Snippet: .. Splicing affecting variants predicted in Alamut can be experimentally validated, but clinically relevant variants are also missed Most of the variants (n = 182/202, 90%) were identified by |