Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.P131L
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SLC26A3

NM_000111.3:p.P131L

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

Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.

Konishi KI et al.

The Journal of Pediatrics, 2019

Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.

Fuwa K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Hong J et al.

European Journal of Pediatrics, 2013

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S et al.

Human Mutation, 2011

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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."