Associated Papers
Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.
Zhang R et al.
Molecular Genetics and Genomics : Mgg, 2025
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.
Shao YF et al.
World Journal of Pediatrics : Wjp, 2023
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
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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