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Q35696704-AF846AD9-7D8D-4603-8F47-79D912F74F71
Q35696704-AF846AD9-7D8D-4603-8F47-79D912F74F71
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35696704-AF846AD9-7D8D-4603-8F47-79D912F74F71
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
P2860
Q35696704-AF846AD9-7D8D-4603-8F47-79D912F74F71
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35696704-AF846AD9-7D8D-4603-8F47-79D912F74F71
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
6ffd991ada8a157fef39562b9711c746d4dc526a
P2860
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.