Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.Q629*
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CLCN5

NM_000084.5:p.Q629*

Associated Papers

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.

Arnous MG et al.

Kidney International Reports, 2023

37284679 (PubMed )
Supplement: mmc1.pdf

Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.

Chang MH et al.

The Journal of Biological Chemistry, 2020

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.

Tang X et al.

Physiological Reports, 2016

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