Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.Q163*
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SPTBN2

NM_006946.4:p.Q163*

Associated Papers

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

Gorcenco S et al.

Journal of Neurology, 2024

37787810 (PubMed )
Supplement: 415_2023_11990_MOESM1_ESM.docx

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Coutelier M et al.

Brain : a Journal of Neurology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."