Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.T46_H47del2
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SLC12A3

NM_001126108.2:p.T46_H47del2

Associated Papers

CRISPR-Cas9-Mediated Correction of SLC12A3 Gene Mutation Rescues the Gitelman's Disease Phenotype in a Patient-Derived Kidney Organoid System.

Lim SW et al.

International Journal of Molecular Sciences, 2023

Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman's syndrome.

Lim SW et al.

Stem Cell Research, 2020

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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."