Associated Papers
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37066275 (PubMed )
Supplement: media-4.docx
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 2022
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