Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
Case Report: Identification of Polygenic Mutations by Exome Sequencing.
Liu Y et al.
Frontiers in Pediatrics, 2021
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
Sritippayawan S et al.
Pediatric Nephrology (berlin, Germany), 2003
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