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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HHATL

Variant:p.K484N

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HHATL

NM_020707.4:p.K484N

hg38:chr3:42692814 C>G

Associated Papers

Gain-of-function mutations in GATA6 lead to atrial fibrillation.

Tucker NR et al.

Heart Rhythm, 2017

27756709 (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."