Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Title
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 90, Issue 2, Pages 369-377
Publisher
Elsevier BV
Online
2012-02-03
DOI
10.1016/j.ajhg.2011.12.023

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