Varaico: Literature-Extracted Genetic Variants

Gene:HOGA1
Variant:p.V245I
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HOGA1

NM_138413.4:p.V245I

Associated Papers

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

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

Abid A et al.

Human Mutation, 2022

Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.

Ventzke A et al.

Pediatric Nephrology (berlin, Germany), 2017

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Beck BB et al.

European Journal of Human Genetics : Ejhg, 2013

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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."