Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.S394I
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SLC26A3

NM_000111.3:p.S394I

Associated Papers

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

Amato F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

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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."