Varaico: Literature-Extracted Genetic Variants

Gene:HOGA1
Variant:p.R281W
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HOGA1

NM_138413.4:p.R281W

Associated Papers

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.

Wang X et al.

Kidney International Reports, 2025

40814648 (PubMed )
Supplement: mmc1.pdf

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Mandrile G et al.

Clinical Kidney Journal, 2025

40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Zhu X et al.

Kidney Diseases (basel, Switzerland), 2024

HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.

Ge Y et al.

World Journal of Urology, 2023

HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.

Abid A et al.

Human Mutation, 2022

Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.

Fang X et al.

Pediatric Nephrology (berlin, Germany), 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."