Open AccessA recurrent de novo missense mutation in UBTF causes developmental neuroregression
Author(s) -
Camilo Toro,
Roderick Hori,
May Christine V. Malicdan,
Cynthia J. Tifft,
Amy Goldstein,
William A. Gahl,
David R. Adams,
Harper B Fauni,
Lynne A. Wolfe,
Jianfeng Xiao,
Mohammad Moshahid Khan,
Jun Tian,
Kevin A. Hope,
Lawrence T. Reiter,
Michel G. Tremblay,
Tom Moss,
Alexis L. Franks,
Chris Balak,
Mark S. LeDoux
Publication year - 2018
Publication title -
human molecular genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddy049
Subject(s) - biology , missense mutation , genetics , mutation , gene
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