Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I846delFs
Back to variants list

SLC12A3

NM_001126108.2:p.I846delFs

Associated Papers

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

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

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

Mori T et al.

Human Mutation, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."