Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I154F
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SLC12A3

NM_001126108.2:p.I154F

Associated Papers

Structure-function relationships in the sodium chloride cotransporter.

Moreno E et al.

Frontiers in Physiology, 2023

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Nan J et al.

Science Advances, 2022

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Kondo A et al.

Scientific Reports, 2021

34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML et al.

Human Mutation, 2002

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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."