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Q56349519-C8D14763-61D9-4098-9D4A-68E84DDEA8D1
Q56349519-C8D14763-61D9-4098-9D4A-68E84DDEA8D1
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http://www.wikidata.org/entity/statement/Q56349519-C8D14763-61D9-4098-9D4A-68E84DDEA8D1
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus
P2860
Q56349519-C8D14763-61D9-4098-9D4A-68E84DDEA8D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q56349519-C8D14763-61D9-4098-9D4A-68E84DDEA8D1
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wasDerivedFrom
7c7c6ddc9b8a734044db99428cb1605f1f2299e4
P2860
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia