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1
Q53212278-17D117CB-76E5-4771-9E95-D83E8CDC37F7
Q53212278-17D117CB-76E5-4771-9E95-D83E8CDC37F7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53212278-17D117CB-76E5-4771-9E95-D83E8CDC37F7
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
P2860
Q53212278-17D117CB-76E5-4771-9E95-D83E8CDC37F7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53212278-17D117CB-76E5-4771-9E95-D83E8CDC37F7
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
afbe829596a42ac65834f4d78b2c93f27367189d
P2860
A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)