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ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

article by Alex Henrie et al published August 2018 in Human Mutation

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

artículo científico publicado en 2019

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

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