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Q46249608-6C6A7231-90F1-4F37-A542-EC521E49E1EA
Q46249608-6C6A7231-90F1-4F37-A542-EC521E49E1EA
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Statement
http://www.wikidata.org/entity/statement/Q46249608-6C6A7231-90F1-4F37-A542-EC521E49E1EA
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
P2860
Q46249608-6C6A7231-90F1-4F37-A542-EC521E49E1EA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46249608-6C6A7231-90F1-4F37-A542-EC521E49E1EA
rank
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wasDerivedFrom
5ede70cbe0da3ab7d4e16ada718b89c1722e591a
P2860
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.