Journal Article

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Ranad Shaheen; Monika Tasak; Sateesh Maddirevula; Ghada M. H. Abdel-Salam; Inas S. M. Sayed; Anas M. Alazami; Tarfa Al-Sheddi; Eman Alobeid; Eric M. Phizicky; Fowzan S. Alkuraya

Human Genetics · Vol. 138, Issue 3 · pp. 231-239 · 2019

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Abstract

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2019-03-01
Publication Year	2019
Volume	138
Issue	3
Pages	231-239
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-019-01980-3

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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