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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNA1

Variant:p.P264delFs

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KCNA1

NM_000217.3:p.P264delFs

hg38:chr12:4912167 TC>T

Associated Papers

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls.

Lee GB et al.

Journal of Clinical Neurology (seoul, Korea), 2021

33835760 (PubMed )

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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."