Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R204C
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SCNN1A

NM_001038.6:p.R204C

Associated Papers

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

Ramos MD et al.

Clinical Genetics, 2014

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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."