Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.R47*
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GRHPR

NM_012203.2:p.R47*

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

Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Liu Y et al.

Pediatric Nephrology (berlin, Germany), 2023

Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report.

Dhondup T et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2018

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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."