Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.Y479*
Back to variants list

CLCN5

NM_000084.5:p.Y479*

Associated Papers

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

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.

Ye Q et al.

Clinical Genetics, 2020

[Clinical and genetic analysis of Dent disease in 4 Chinese children].

Jian S et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."