Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.L491P
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SPTBN2

NM_006946.4:p.L491P

Associated Papers

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

35401678 (PubMed )
Supplement: DataSheet1.PDF

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Sancho P et al.

International Journal of Molecular Sciences, 2021

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