Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.N508H
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SPTBN2

NM_006946.4:p.N508H

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

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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