Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.L348P
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SLC26A1

NM_022042.4:p.L348P

Associated Papers

SLC26A1 directs sulfate homeostasis in health and disease.

Pitzken F et al.

Current Opinion in Nephrology and Hypertension, 2026

SLC26A1 is a major determinant of sulfate homeostasis in humans.

Pfau A et al.

The Journal of Clinical Investigation, 2023

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Bjornsdottir G et al.

Nature Communications, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.

Tise CG et al.

G3 (bethesda, Md.), 2016

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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."