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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH2

Variant:p.K817E

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KCNH2

NM_000238.4:p.K817E

hg38:chr7:150948999 T>C

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )

Supplement: 41598_2018_30577_MOESM1_ESM.pdf

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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."