web-based variant interpretation tool franklin (Genoox Inc)
90
Structured Review
Genoox Inc
web-based variant interpretation tool franklin
Web Based Variant Interpretation Tool Franklin, supplied by Genoox 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/product/web-based+variant+interpretation+tool+franklin/web+based+variant+interpretation+tool+franklin/pmc12006490-261-30-38
Average 90 stars, based on 1 article reviews
Web Based Variant Interpretation Tool Franklin, supplied by Genoox 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/product/web-based+variant+interpretation+tool+franklin/web+based+variant+interpretation+tool+franklin/pmc12006490-261-30-38
Average 90 stars, based on 1 article reviews
web-based variant interpretation tool franklin - by Bioz Stars,
2026-10
90/100 stars
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other:Article Title: Variants in CFAP410 cause a range of retinal and skeletal phenotypes Article Snippet: Variant classification within this research study was performed according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al. ) guidelines using the web-based variant interpretation tool Franklin applying Article Title: Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy. Article Snippet: Variant classification within this research study was performed according to American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) 30 guidelines using the Article Title: Variants in CFAP410 cause a range of retinal and skeletal phenotypes. Article Snippet: Article Title: Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort Article Snippet: The filtered variants were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria ( Richards et al. , 2015 ) and ClinGen recommendations ( Pejaver et al. , 2022 ) as pathogenic (P), likely pathogenic (LP), variants of uncertain significance (VUS), likely benign (LB), or benign (B), using the Variant Assay:Article Title: Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Article Snippet: .. The pathogenic impact of the CNGA3 variants listed in this study was automatically and/or semi‐automatically classified according to the standards and guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) (Richards et al., 2015) using the web‐ based variant |