Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.V308M
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CLCN5

NM_000084.5:p.V308M

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

Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

Priante G et al.

International Journal of Molecular Sciences, 2023

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