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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCNN1A

Variant:p.E60*

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SCNN1A

NM_001038.6:p.E60*

hg38:chr12:6374606 C>A

Associated Papers

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

Viel M et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008

17560176 (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."