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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSC2

Variant:p.Q158_V159Splc

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DSC2

NM_024422.6:p.Q158_V159Splc

hg38:chr18:31089595 C>A

Associated Papers

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation.

Ahlberg G et al.

Nature Communications, 2018

30333491 (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."