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Q53212278-54E3E612-FDD3-45B1-A3A2-791CB13C31A9
Q53212278-54E3E612-FDD3-45B1-A3A2-791CB13C31A9
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http://www.wikidata.org/entity/statement/Q53212278-54E3E612-FDD3-45B1-A3A2-791CB13C31A9
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
P2860
Q53212278-54E3E612-FDD3-45B1-A3A2-791CB13C31A9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53212278-54E3E612-FDD3-45B1-A3A2-791CB13C31A9
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type
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wasDerivedFrom
6a08e24cd7b780d56e0a9a65bcad9a2ecd220fc9
P2860
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study