Open AccessAberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome
Author(s) -
Megan Kane,
Thierry Vilboux,
Lynne A. Wolfe,
Paul R. Lee,
Yupeng Wang,
Kathi Huddleston,
Joseph G. Vockley,
John E. Niederhuber,
Benjamin D. Solomon
Publication year - 2016
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/aww135
Subject(s) - hypopigmentation , genetics , exome sequencing , agenesis of the corpus callosum , population , mutation , biology , medicine , pathology , corpus callosum , gene , environmental health
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