Title : Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Pub. Date : 2022 Apr 14

PMID : 35422034






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 CAG-expanded ATXN7 has been previously defined in the pathogenesis of spinocerebellar ataxia type 7 (SCA7), a polyglutamine expansion autosomal dominant cerebellar ataxia. polyglutamine ataxin 7 Homo sapiens
2 CAG-expanded ATXN7 has been previously defined in the pathogenesis of spinocerebellar ataxia type 7 (SCA7), a polyglutamine expansion autosomal dominant cerebellar ataxia. polyglutamine ataxin 7 Homo sapiens