Varaico: Literature-Extracted Genetic Variants

Gene:HOGA1
Variant:p.P45L
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HOGA1

NM_138413.4:p.P45L

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

Clinical utility of genetic testing in Indian children with kidney diseases.

Saha A et al.

Bmc Nephrology, 2023

Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.

Abid A et al.

Clinical Genetics, 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

Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.

Talati JJ et al.

Urolithiasis, 2018

Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.

Clifford-Mobley O et al.

Annals of Clinical Biochemistry, 2016

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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."