List of works - Marina T DiStefano - Paulina

List of works by Marina T DiStefano

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

ClinVar database of global familial hypercholesterolemia-associated DNA variants

scientific article published on 01 November 2018

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

scientific article published on 04 June 2019

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

scientific article published on 01 November 2018

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

scientific article published on 07 September 2018

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