학술논문

A novel likely pathogenic CLCN5 variant in Dent's disease.
Document Type
Case Study
Source
BMC Nephrology; 8/28/2023, Vol. 24 Issue 1, p1-6, 6p
Subject
CHILD patients
VOLTAGE-gated ion channels
WHOLE genome sequencing
KIDNEY failure
RENAL biopsy
GENETIC testing
RENAL tubular transport disorders
Language
ISSN
14712369
Abstract
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