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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. (2023)

First Author: Josephs KS

Attributed to: 'Unlocking therapeutic innovation in heart failure through genomic data science funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1186/s13073-023-01246-8

PubMed Identifier: 37872640

Publication URI: http://europepmc.org/abstract/MED/37872640

Type: Journal Article/Review

Volume: 15

Parent Publication: Genome medicine

Issue: 1

ISSN: 1756-994X