Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.S277R
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CLCN5

NM_001127898.4:p.S277R

Associated Papers

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

Wang Y et al.

International Journal of Biological Macromolecules, 2024

Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.

Hu L et al.

Stem Cell Research, 2021

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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."