Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.R280P
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CLCN7

NM_001287.6:p.R280P

Associated Papers

ClC-5: Physiological role and biophysical mechanisms.

Pusch M et al.

Cell Calcium, 2015

Chloride channels in renal disease.

Thakker RV

Advances in Nephrology From the Necker Hospital, 1999

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Lloyd SE et al.

The Journal of Clinical Investigation, 1997

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.

Thakker RV

Experimental Nephrology, 0

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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."