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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH7

Variant:p.R394S

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KCNH7

NM_033272.4:p.R394S

hg38:chr2:162446392 G>T

Associated Papers

A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

Gilliam D et al.

Journal of Veterinary Internal Medicine, 0

24708069 (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."