Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.R295C
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KCNA1

NM_000217.3:p.R295C

Associated Papers

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

Paulhus K et al.

International Journal of Molecular Sciences, 2023

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4

Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion.

Mahale RR et al.

Annals of Indian Academy of Neurology, 0

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