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Q46145781-506E9BF5-2DDE-4B7E-BF02-625A37EAA977
Q46145781-506E9BF5-2DDE-4B7E-BF02-625A37EAA977
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-506E9BF5-2DDE-4B7E-BF02-625A37EAA977
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
Q46145781-506E9BF5-2DDE-4B7E-BF02-625A37EAA977
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-506E9BF5-2DDE-4B7E-BF02-625A37EAA977
rank
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type
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wasDerivedFrom
ff2e33fbe6eb4d837ed858d1d75731ca43ff6c99
P2860
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases