Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.P331L
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SLC12A3

NM_001126108.2:p.P331L

Associated Papers

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

Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist.

Calò LA et al.

Journal of Nephrology, 2021

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