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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNA1

Variant:p.I177_L178del2

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KCNA1

NM_000217.3:p.I177_L178del2

hg38:chr12:4911904 GTCATCC>G

Associated Papers

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.

Hadjivassiliou M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

27965395 (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."