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Standardizing variant naming in literature with VariantValidator to increase diagnostic rates. (2024)

First Author: Freeman PJ

Attributed to: Leicester – Confidence in Concept 2019 funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41588-024-01938-w

PubMed Identifier: 39358598

Publication URI: http://europepmc.org/abstract/MED/39358598

Type: Journal Article/Review

Volume: 56

Parent Publication: Nature genetics

Issue: 11

ISSN: 1061-4036