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Q48959079-4BA3FEB7-D14F-4F78-9EC4-E82EB5527D24
Q48959079-4BA3FEB7-D14F-4F78-9EC4-E82EB5527D24
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http://www.wikidata.org/entity/statement/Q48959079-4BA3FEB7-D14F-4F78-9EC4-E82EB5527D24
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
P2860
Q48959079-4BA3FEB7-D14F-4F78-9EC4-E82EB5527D24
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48959079-4BA3FEB7-D14F-4F78-9EC4-E82EB5527D24
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wasDerivedFrom
7613c9f40ee3842c768a4ca404c29e37f3d278a1
P2860
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).