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.
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| Description | scientific article published on 4 July 2018 |
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author: Dong Zhou Qiong Wang Huawei Xin |
| Publication date | July 4, 2018 |
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