Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.V248I
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GRHPR

NM_012203.2:p.V248I

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

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.

Nachmanson D et al.

Bmc Medical Genomics, 2020

33208147 (PubMed )
Supplement: 12920_2020_820_MOESM2_ESM.xlsx › S8_DCIS_Mutations
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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."