Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.S669*
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SLC26A3

NM_000111.3:p.S669*

Associated Papers

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

Li Q et al.

Bmc Pediatrics, 2024

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.

Guo W et al.

Human Mutation, 2020

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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."