Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.E236V
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GRHPR

NM_012203.2:p.E236V

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.

Krishnasamy S et al.

Pediatric Nephrology (berlin, Germany), 2024

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.

Alfadhel M et al.

Pediatric Nephrology (berlin, Germany), 2023

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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."