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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
Shimada, Shino, Hirasawa, Kyoko, Takeshita, Akiko, Nakatsukasa, Hidetsugu, Yamamoto-Shimojima, Keiko, Imaizumi, Taichi, Nagata, Satoru, Yamamoto, ToshiyukiLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.40500
Date:
August, 2018
File:
PDF, 1.09 MB
english, 2018