Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.P367L
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SLC12A3

NM_001126108.2:p.P367L

Associated Papers

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Granata P et al.

Bmc Genomics, 2024

39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf

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

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

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

Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.

Mori T et al.

Human Mutation, 2021

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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."