Varaico: Literature-Extracted Genetic Variants

Gene:KCNK13
Variant:p.R308Q
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KCNK13

NM_022054.4:p.R308Q

Associated Papers

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Tsoi H et al.

Journal of Medical Genetics, 2014

25062847 (PubMed )
Supplement: jmedgenet-2014-102333-s1.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."