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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy

Joshi Stephen; Sheela Nampoothiri; Aditi Banerjee; Nathanial J. Tolman; Josef Martin Penninger; Ullrich Elling; Chukwuma A. Agu; John D. Burke; Kalpana Devadathan; Rajesh Kannan; Yan Huang; Peter J. Steinbach; Susan A. Martinis; William A. Gahl; May Christine V. Malicdan
Human Genetics · Vol. 137, Issue 4 · pp. 293-303 · 2018

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2018-04-01
Publication Year2018
Volume137
Issue4
Pages293-303
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-018-1882-3

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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