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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH2

Variant:p.R711Splc

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KCNH2

NM_172057.3:p.R711Splc

hg38:chr7:150947325 C>A

Associated Papers

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q et al.

Annals of Translational Medicine, 2020

32055599 (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."