Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.R199C
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SLC12A1

NM_000338.3:p.R199C

Associated Papers

Dynamics and recognition of homeodomain containing protein-DNA complex of IRX4.

Malik A et al.

Proteins, 2024

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A

Laboratory Medicine, 2024

A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report.

Zhou L et al.

Frontiers in Pediatrics, 2023

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.

Xin Q et al.

Frontiers in Genetics, 2022

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

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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."