Increasing phenotypic annotation improves the diagnostic...

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Human Mutation 2019 / 06

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

Thompson, Rachel, Papakonstantinou Ntalis, Anastasios, Beltran, Sergi, Töpf, Ana, de Paula Estephan, Eduardo, Polavarapu, Kiran, ’t Hoen, Peter A. C., Missier, Paolo, Lochmüller, Hanns
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23792
Date:
June, 2019
File:
PDF, 1.90 MB
english, 2019
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