Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.I675_R676ins1
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SLC26A3

NM_000111.3:p.I675_R676ins1

Associated Papers

Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.

Sadagah LF et al.

The American Journal of Case Reports, 2022

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Wedenoja S et al.

Scientific Reports, 2017

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

A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls.

Özbay Hoşnut F et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2010

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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."