Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.A193A
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GRHPR

NM_012203.2:p.A193A

Associated Papers

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.

Konkoľová J et al.

Bmc Medical Genetics, 2017

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."