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Q35632675-0D648B39-17E6-40C1-8449-5258B832CB15
Q35632675-0D648B39-17E6-40C1-8449-5258B832CB15
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35632675-0D648B39-17E6-40C1-8449-5258B832CB15
Rare copy number variants are an important cause of epileptic encephalopathies.
P2860
Q35632675-0D648B39-17E6-40C1-8449-5258B832CB15
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35632675-0D648B39-17E6-40C1-8449-5258B832CB15
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wasDerivedFrom
2d7702a58936a3858d5fd489df9d8bc7f32bf8bd
P2860
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.