Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Thompson, R.; Papakonstantinou Ntalis, A.; Beltran, S.; Tapf, A.; de Paula Estephan, E.; Polavarapu, K.; ’t Hoen, P. A. C.; Missier, P.; and Lochmuller, H. Human Mutation.
bibtex   
@article{doi:10.1002/humu.23792,
author = {Thompson, Rachel and Papakonstantinou Ntalis, Anastasios and Beltran, Sergi and Tapf, Ana and de Paula Estephan, Eduardo and Polavarapu, Kiran and ’t Hoen, Peter A. C. and Missier, Paolo and Lochmuller, Hanns},
title = {Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder},
journal = {Human Mutation}
}
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