Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.V334L
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SLC19A3

NM_025243.4:p.V334L

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

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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."