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Q34277615-45296852-75E0-4147-A319-12A26B5D2764
Q34277615-45296852-75E0-4147-A319-12A26B5D2764
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34277615-45296852-75E0-4147-A319-12A26B5D2764
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
P2860
Q34277615-45296852-75E0-4147-A319-12A26B5D2764
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34277615-45296852-75E0-4147-A319-12A26B5D2764
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
7a5617e4a504ea6655c5f5498a8885c068b166f9
P2860
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.