Varaico: Literature-Extracted Genetic Variants

Gene:STON2
Variant:p.L36F
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STON2

NM_001394390.1:p.L36F

Associated Papers

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

Kyöstilä K et al.

Plos Genetics, 2012

22719266 (PubMed )
Supplement: pgen.1002759.s002.pdf
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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."