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Q46145781-1A7A0EC0-9D31-46F8-B8E8-EEDB861AE2AD
Q46145781-1A7A0EC0-9D31-46F8-B8E8-EEDB861AE2AD
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http://www.wikidata.org/entity/statement/Q46145781-1A7A0EC0-9D31-46F8-B8E8-EEDB861AE2AD
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
P2860
Q46145781-1A7A0EC0-9D31-46F8-B8E8-EEDB861AE2AD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-1A7A0EC0-9D31-46F8-B8E8-EEDB861AE2AD
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wasDerivedFrom
ff2e33fbe6eb4d837ed858d1d75731ca43ff6c99
P2860
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.