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1
Q36108386-6DB8E89E-320A-42D5-ACA4-024A1DF20FA5
Q36108386-6DB8E89E-320A-42D5-ACA4-024A1DF20FA5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-6DB8E89E-320A-42D5-ACA4-024A1DF20FA5
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.
P921
Q36108386-6DB8E89E-320A-42D5-ACA4-024A1DF20FA5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36108386-6DB8E89E-320A-42D5-ACA4-024A1DF20FA5
rank
NormalRank
type
BestRank
Statement
P921
disability