Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.R175S
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SLC26A3

NM_000111.3:p.R175S

Associated Papers

Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.

Yan W et al.

Orphanet Journal of Rare Diseases, 2021

Congenital chloride diarrhea in dizygotic twins.

Seo KA et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2013

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

Lee ES et al.

Annals of Laboratory Medicine, 2012

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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."