Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.E113K
Back to variants list

GRHPR

NM_012203.2:p.E113K

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

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S9

Precision medicine - networks to the rescue.

Yadav A et al.

Current Opinion in Biotechnology, 2020

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.

Takayama T et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."