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Q47136304-8EC2CAB5-B398-4AB8-AB65-79248AD5773C
Q47136304-8EC2CAB5-B398-4AB8-AB65-79248AD5773C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47136304-8EC2CAB5-B398-4AB8-AB65-79248AD5773C
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
P2860
Q47136304-8EC2CAB5-B398-4AB8-AB65-79248AD5773C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47136304-8EC2CAB5-B398-4AB8-AB65-79248AD5773C
rank
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wasDerivedFrom
2a663d3f42686720ca60d8d555c358ed2832a758
P2860
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.