Associated Papers
Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea.
Wedenoja S et al.
Plos One, 2025
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.
Wedenoja S et al.
Scientific Reports, 2017
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
Fuwa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
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