Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.F180delFs
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GRHPR

NM_012203.2:p.F180delFs

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

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

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

Takayama T et al.

Clinical Genetics, 2014

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.

Price KL et al.

Urological Research, 2009

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

Cregeen DP et al.

Human Mutation, 2003

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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."