Associated Papers
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge
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
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf
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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