Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
American Journal of Medical Genetics Part A, EarlyView.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Shino
Shimada
,
Kyoko
Hirasawa
,
Akiko
Takeshita
,
Hidetsugu
Nakatsukasa
,
Keiko
Yamamoto âShimojima
,
Taichi
Imaizumi
,
Satoru
Nagata
,
Toshiyuki
Yamamoto Source Type: research
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