Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.I683N
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SLC26A3

NM_000111.3:p.I683N

Associated Papers

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.

Li Q et al.

Bmc Pediatrics, 2024

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

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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."