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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. (2023)

First Author: Denommé-Pichon AS
Attributed to:  Disease mechanisms and therapy for inherited disorders of the neuromuscular synapse. funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2023.100018

PubMed Identifier: 36681873

Publication URI: http://europepmc.org/abstract/MED/36681873

Type: Journal Article/Review

Volume: 25

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 4

ISSN: 1098-3600