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Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1
Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.
P2860
Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48001042-855BA1BF-A842-4070-B1A3-78F0FA386CA1
rank
NormalRank
type
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Statement
wasDerivedFrom
ee2fee22f61bb77428db9be1f38170480401d6c4
P2860
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)