Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227Splc
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AGXT

NM_000030.3:p.K227Splc

Associated Papers

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.

Sayed B et al.

Orphanet Journal of Rare Diseases, 2025

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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."