Varaico: Literature-Extracted Genetic Variants

Gene:HOGA1
Variant:p.D201E
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HOGA1

NM_138413.4:p.D201E

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 and molecular characterization of primary hyperoxaluria in Egypt.

Soliman NA et al.

Scientific Reports, 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

Folding Defects Leading to Primary Hyperoxaluria.

Oppici E et al.

Handbook of Experimental Pharmacology, 2018

HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.

M'dimegh S et al.

Journal of Clinical Laboratory Analysis, 2017

Renal function can be impaired in children with primary hyperoxaluria type 3.

Allard L et al.

Pediatric Nephrology (berlin, Germany), 2015

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL et al.

Molecular Genetics & Genomic Medicine, 2015

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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."