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Q48249670-13EFF922-2F35-40D2-BCEA-919662B8973F
Q48249670-13EFF922-2F35-40D2-BCEA-919662B8973F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48249670-13EFF922-2F35-40D2-BCEA-919662B8973F
The spectrum of SCN1A-related infantile epileptic encephalopathies.
P2860
Q48249670-13EFF922-2F35-40D2-BCEA-919662B8973F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48249670-13EFF922-2F35-40D2-BCEA-919662B8973F
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wasDerivedFrom
bfcbf2618efedd5cb16d87cd15578a7ab2fedd38
P2860
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.