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Q37387573-1792797F-959A-4E1E-87D4-25833500B4D2
Q37387573-1792797F-959A-4E1E-87D4-25833500B4D2
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http://www.wikidata.org/entity/statement/Q37387573-1792797F-959A-4E1E-87D4-25833500B4D2
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
P2860
Q37387573-1792797F-959A-4E1E-87D4-25833500B4D2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37387573-1792797F-959A-4E1E-87D4-25833500B4D2
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wasDerivedFrom
6c6b688d297f07733b90d800e0f08119b4fa7583
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).