Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G512R
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CLCN5

NM_000084.5:p.G512R

Associated Papers

Diagnosis and treatment of Dent disease in 10 Chinese boys.

He G et al.

Intractable & Rare Diseases Research, 2017

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."