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Author/Creator Zhuo, Qingcui

1. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing. Issue 5 (4th July 2018)

Authors:
Yang, Junli; Wang, Qiong; Zhuo, Qingcui; Tian, Huiling; Li, Wen; Luo, Fang; Zhang, Jinghui; Bi, Dan; Peng, Jing; Zhou, Dong; Xin, Huawei
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 5(2018)
Page Start:
739
Record Type:
Journal Article
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