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Q37612662-1CE5B867-5B75-40D8-B601-990293633F85
Q37612662-1CE5B867-5B75-40D8-B601-990293633F85
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37612662-1CE5B867-5B75-40D8-B601-990293633F85
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.
P2860
Q37612662-1CE5B867-5B75-40D8-B601-990293633F85
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37612662-1CE5B867-5B75-40D8-B601-990293633F85
rank
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type
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Statement
wasDerivedFrom
c918a0226f5219077ec6052ffb6124cda1778534
P2860
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)