Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R345W
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CLCN5

NM_000084.5:p.R345W

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

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

Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Gellert P et al.

Nature Communications, 2016

27827358 (PubMed )
Supplement: ncomms13294-s3.xlsx › Phase_I

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

Tang X et al.

Physiological Reports, 2016

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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."