Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G482delFs
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CLCN5

NM_001127898.4:p.G482delFs

Associated Papers

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.

Ni J et al.

Frontiers in Pediatrics, 2022

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Gao M et al.

Frontiers in Genetics, 2022

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Gianesello L et al.

Human Genetics, 2021

32860533 (PubMed )
Supplement: 439_2020_2219_MOESM1_ESM.docx

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."