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Q46145781-4EDBF600-6659-4E16-9DD6-00B05F2FB289
Q46145781-4EDBF600-6659-4E16-9DD6-00B05F2FB289
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-4EDBF600-6659-4E16-9DD6-00B05F2FB289
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
Q46145781-4EDBF600-6659-4E16-9DD6-00B05F2FB289
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46145781-4EDBF600-6659-4E16-9DD6-00B05F2FB289
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ff2e33fbe6eb4d837ed858d1d75731ca43ff6c99
P2860
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.