Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.E527D
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CLCN5

NM_000084.5:p.E527D

Associated Papers

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Durán M et al.

Human Molecular Genetics, 2021

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

Smith AJ et al.

American Journal of Physiology. Renal Physiology, 2009

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M et al.

Human Genetics, 2005

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

Wu F et al.

Kidney International, 2003

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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."