Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
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| Description | scientific article |
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author: Mohammad K Eldomery Yavuz Bayram Baylor-Hopkins Center for Mendelian Genomics Jill A Rosenfeld Eric Boerwinkle Gozde Yesil Yaping Yang Richard A Gibbs Davut Pehlivan Shalini Jhangiani Jill V Hunter Tamar Harel John W. Belmont Ender Karaca Ayman El-Hattab Zeynep Coban Akdemir James R. Lupski Donna Muzny |
| Publication date | March 1, 2016 |
| Language | English |
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