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Q37612662-F8B23DD9-51E5-4449-8F0A-C75103A7D732
Q37612662-F8B23DD9-51E5-4449-8F0A-C75103A7D732
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Statement
http://www.wikidata.org/entity/statement/Q37612662-F8B23DD9-51E5-4449-8F0A-C75103A7D732
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.
P2860
Q37612662-F8B23DD9-51E5-4449-8F0A-C75103A7D732
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37612662-F8B23DD9-51E5-4449-8F0A-C75103A7D732
rank
NormalRank
type
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Statement
wasDerivedFrom
c918a0226f5219077ec6052ffb6124cda1778534
P2860
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.