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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH1

Variant:p.Y539_I540del1

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KCNH1

NM_172362.3:p.Y539_I540del1

hg38:chr1:210804010 ATAT>A

Associated Papers

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Gripp KW et al.

European Journal of Human Genetics : Ejhg, 2021

33594261 (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."