Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.R199H
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SLC12A1

NM_000338.3:p.R199H

Associated Papers

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

Malik A et al.

Proteins, 2024

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

García-Castaño A et al.

Scientific Reports, 2023

Phenotypic and genotypic characteristics of children with Bartter syndrome.

Güven S et al.

The Turkish Journal of Pediatrics, 2022

Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene.

Acar FA et al.

Indian Journal of Nephrology, 0

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