Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.D53H
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PAX5

NM_016734.3:p.D53H

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Gofin Y et al.

Human Mutation, 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."