Whole-exome sequencing links TMCO1 defect syndrome with...

European Journal of Human Genetics 2014 / 9 Vol. 22; Iss. 9

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R
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Volume:
22
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2013.291
Date:
September, 2014
File:
PDF, 758 KB
english, 2014
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