Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.H124L
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SLC26A3

NM_000111.3:p.H124L

Associated Papers

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S et al.

Human Mutation, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

Wedenoja S et al.

Kidney International, 2008

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S et al.

Human Mutation, 2002

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.

Kere J et al.

The American Journal of Physiology, 1999

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."