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Biallelic Variants in CNPY3 , Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy
Mutoh, Hiroki, Kato, Mitsuhiro, Akita, Tenpei, Shibata, Takuma, Wakamoto, Hiroyuki, Ikeda, Hiroko, Kitaura, Hiroki, Aoto, Kazushi, Nakashima, Mitsuko, Wang, Tianying, Ohba, Chihiro, Miyatake, Satoko,Volume:
102
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2018.01.004
Date:
February, 2018
File:
PDF, 1.89 MB
english, 2018