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Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8
Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8
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.
P2860
Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8
rank
NormalRank
type
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wasDerivedFrom
5df9e82aacdfb2f71ae44f73099ee5c24e822fa5
P2860
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome