Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.F118delFs
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SLC26A3

NM_000111.3:p.F118delFs

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

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 needs to be distinguished from Bartter and Gitelman syndrome.

Matsunoshita N et al.

Journal of Human Genetics, 2018

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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."