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1
Q64983218-A71A70B6-147C-4EB1-BB19-ED1038FBDC09
Q64983218-A71A70B6-147C-4EB1-BB19-ED1038FBDC09
BestRank
Statement
http://www.wikidata.org/entity/statement/Q64983218-A71A70B6-147C-4EB1-BB19-ED1038FBDC09
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.
P50
Q64983218-A71A70B6-147C-4EB1-BB19-ED1038FBDC09
BestRank
Statement
http://www.wikidata.org/entity/statement/Q64983218-A71A70B6-147C-4EB1-BB19-ED1038FBDC09
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
9d6581f81cf028f93dd8844f260f5c2249ef1319
P1545
11
http://www.w3.org/2001/XMLSchema#string
P50
Huawei Xin