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Q46145781-345308B0-20B0-4C74-89DC-DD6DF1DA144C
Q46145781-345308B0-20B0-4C74-89DC-DD6DF1DA144C
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Statement
http://www.wikidata.org/entity/statement/Q46145781-345308B0-20B0-4C74-89DC-DD6DF1DA144C
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
Q46145781-345308B0-20B0-4C74-89DC-DD6DF1DA144C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-345308B0-20B0-4C74-89DC-DD6DF1DA144C
rank
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type
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wasDerivedFrom
ff2e33fbe6eb4d837ed858d1d75731ca43ff6c99
P2860
A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.