Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.F363L
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KCNC3

NM_004977.3:p.F363L

Associated Papers

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.

Issa FA et al.

Disease Models & Mechanisms, 2012

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels.

Mock AF et al.

Bmc Neuroscience, 2010

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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."