Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.Q256fs
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GRHPR

NM_012203.2:p.Q256fs

Associated Papers

Clinical and molecular characterization of primary hyperoxaluria in Egypt.

Soliman NA et al.

Scientific Reports, 2022

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Ahmed HA et al.

Molecular Genetics & Genomic Medicine, 2022

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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."