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Q52639570-3CB2BFC0-639D-460A-A3F5-E3D8C93961CD
Q52639570-3CB2BFC0-639D-460A-A3F5-E3D8C93961CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52639570-3CB2BFC0-639D-460A-A3F5-E3D8C93961CD
A novel variant in MED12 gene: Further delineation of phenotype.
P2860
Q52639570-3CB2BFC0-639D-460A-A3F5-E3D8C93961CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52639570-3CB2BFC0-639D-460A-A3F5-E3D8C93961CD
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Statement
wasDerivedFrom
940d9a1839783b6c3005ee9c59b10d76f4ccb435
P2860
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].