Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.Y272C
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OCRL

NM_000276.4:p.Y272C

Associated Papers

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

Mura-Escorche G et al.

Biomedicines, 2023

38002082 (PubMed )
Supplement: biomedicines-11-03082-s001.zip › biomedicines-2665667-supplementary.pdf

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

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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."