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1
Q36108386-8A9F2C00-1BE2-4A87-B785-3D1DD7E25EFF
Q36108386-8A9F2C00-1BE2-4A87-B785-3D1DD7E25EFF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-8A9F2C00-1BE2-4A87-B785-3D1DD7E25EFF
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
P2093
Q36108386-8A9F2C00-1BE2-4A87-B785-3D1DD7E25EFF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-8A9F2C00-1BE2-4A87-B785-3D1DD7E25EFF
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
6de4c5b12cf400923a070fa291cc87640368f102
P1545
7
http://www.w3.org/2001/XMLSchema#string
P2093
Marcia Ferguson
http://www.w3.org/2001/XMLSchema#string