Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.A11_H12insFs
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HAO2

NM_016527.4:p.A11_H12insFs

Associated Papers

Hyperoxaluria by the AGXT gene: a case report.

Naghettini AV et al.

Journal of Medical Case Reports, 2026

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

Bakkaloğlu SA et al.

Nephrology (carlton, Vic.), 2024

Genetic assessment in primary hyperoxaluria: why it matters.

Mandrile G et al.

Pediatric Nephrology (berlin, Germany), 2023

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.

Sikora P et al.

Polish Archives of Internal Medicine, 2020

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