Varaico: Literature-Extracted Genetic Variants

Gene:HAO1
Variant:p.D170N
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HAO1

NM_017545.3:p.D170N

Associated Papers

Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.

Saffe S et al.

Pediatric Nephrology (berlin, Germany), 2025

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

Bakkaloğlu SA et al.

Nephrology (carlton, Vic.), 2024

Lumasiran for primary hyperoxaluria type 1: What we have learned?

Gang X et al.

Frontiers in Pediatrics, 2022

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

Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.

Cai R et al.

Bmc Nephrology, 2019

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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."