Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
Walsh MA et al.
Pacing and Clinical Electrophysiology : Pace, 2016
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