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

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

published in: Nature Communications

date of publication: 2015-11-02

language: English

main subject: Roifman syndrome

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Article - wd:Q36341418

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