Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.L1055Splc
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SLC12A1

NM_000338.3:p.L1055Splc

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

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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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."