Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

This is a publication. If there is no link to the publication on this page, you can try the pre-formated search via the search engines listed on this page.

Authors: Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller

Journal title: Human Mutation

Journal number: 40/10

Journal publisher: John Wiley & Sons Inc.

Published year: 2019

Published pages: 1797-1812

DOI identifier: 10.1002/humu.23792

ISSN: 1059-7794