Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.A62V
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APRT

NM_000485.3:p.A62V

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL et al.

European Journal of Human Genetics : Ejhg, 2021

33707627 (PubMed )
Supplement: 41431_2020_805_MOESM1_ESM.docx
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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."