Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.S570N
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SCNN1B

NM_000336.3:p.S570N

Associated Papers

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Xu P et al.

Human Genetics, 2023

Genetic variants in children with chronic respiratory diseases.

Alsamri MT et al.

Pediatric Pulmonology, 2020

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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."