Varaico: Literature-Extracted Genetic Variants

Gene:HOGA1
Variant:p.V170I
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HOGA1

NM_138413.4:p.V170I

Associated Papers

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

Groothoff JW et al.

Nature Reviews. Nephrology, 2023

36604599 (PubMed )
Supplement: 41581_2022_661_MOESM1_ESM.pdf

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

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

Talati JJ et al.

Urolithiasis, 2018

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."