Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.R117Q
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PAX2

NM_000278.5:p.R117Q

Associated Papers

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Williamson KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31700164 (PubMed )
Supplement: 41436_2019_685_MOESM5_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."