Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.I115delFs
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SLC26A3

NM_000111.3:p.I115delFs

Associated Papers

Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.

Liaugaudiene O et al.

Journal of Pediatric Genetics, 2019

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S et al.

Human Mutation, 2011

The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea.

Wedenoja S et al.

Kidney International, 2008

Long-term clinical outcome in patients with congenital chloride diarrhea.

Hihnala S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2006

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S et al.

Human Mutation, 2002

A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online.

Etani Y et al.

Human Mutation, 1998

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Höglund P et al.

Human Mutation, 1998

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Höglund P et al.

Nature Genetics, 1996

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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."