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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

Author/s

author: Ulrich Braunschweig, Ryan Yuen, Paul Gray, Sergio L Pereira, Stephen W. Scherer, Benjamin J. Blencowe, Daniele Merico, Thomas Nalpathamkalam, Maian Roifman, Zhuozhi Wang, Roumiana Alexandrova, Chaim M Roifman, Jane Peake

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Work details

Publication date
November 2, 2015
- -
Language
English

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