Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.A433A
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SLC26A3

NM_000111.3:p.A433A

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

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Konishi KI et al.

Molecular Genetics & Genomic Medicine, 2020

Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.

Fujino S et al.

Genes, 2017

Molecular Changes Associated with Acquired Resistance to Crizotinib in ROS1-Rearranged Non-Small Cell Lung Cancer.

Song A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

25688157 (PubMed )
Supplement: 10780432ccr141350-sup-132280_2_supp_2801337_nhwx4q.xlsx › Sheet1

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.

Reimold FR et al.

Frontiers in Physiology, 2015

Extensive molecular analysis of patients bearing CFTR-related disorders.

Amato F et al.

The Journal of Molecular Diagnostics : Jmd, 2012

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S et al.

Human Mutation, 2011

Significance of molecular testing for congenital chloride diarrhea.

Lechner S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S et al.

Human Mutation, 2002

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

Höglund P et al.

Human Mutation, 2001

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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."