Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.L503*
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CLCN5

NM_001127898.4:p.L503*

Associated Papers

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.

Duan N et al.

Bmc Nephrology, 2021

[Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].

Zhu BZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

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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."