Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.P79_R80insFs
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SLC12A3

NM_001126108.2:p.P79_R80insFs

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A

Laboratory Medicine, 2024

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Palazzo V et al.

International Journal of Molecular Sciences, 2022

35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf

Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.

Wang L et al.

Acta Biochimica Et Biophysica Sinica, 2015

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