Varaico: Literature-Extracted Genetic Variants

Gene:ATP4A
Variant:p.R280P
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ATP4A

NM_000704.3:p.R280P

Associated Papers

Chloride channels in renal disease.

Thakker RV

Advances in Nephrology From the Necker Hospital, 1999

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

Igarashi T et al.

Kidney International, 1998

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."