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Q50303860-A224CBEF-FEE5-49D1-B030-16E115DE82ED
Q50303860-A224CBEF-FEE5-49D1-B030-16E115DE82ED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50303860-A224CBEF-FEE5-49D1-B030-16E115DE82ED
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
P2860
Q50303860-A224CBEF-FEE5-49D1-B030-16E115DE82ED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50303860-A224CBEF-FEE5-49D1-B030-16E115DE82ED
rank
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Statement
wasDerivedFrom
68bb70b6031b8a28e8b9ff0ab1d468127381460a
P2860
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome