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Database of CLCN5 Pathogenic Variants Causing Dent Disease

Introduction: Dent disease type 1 is an X-linked proximal tubulopathy caused by pathogenic variants in CLCN5, which encodes the chloride/proton exchanger, ClC-5. Loss of ClC-5 function disrupts receptor-mediated endocytosis, resulting in low–molecular-weight proteinuria, hypercalciuria, nephrocalcin...

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Principais autores: Pin Lyu, Kyung Whan Yoo, Zhuo Chen, Fangyu Lu, Andrea Cogal, Peter C. Harris, John C. Lieske, Baisong Lu
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2026-05-01
Serier:Kidney International Reports
Fag:
ClC-5
CLCN5
Dent disease type 1
helix H
HGVS nomenclature
variant database
Online adgang:http://www.sciencedirect.com/science/article/pii/S2468024926027075
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