Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.R31Q
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PAX5

NM_016734.3:p.R31Q

Associated Papers

A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder.

Ghafouri-Fard S et al.

Molecular Neurobiology, 2023

Inborn errors of human B cell development, differentiation, and function.

Tangye SG et al.

The Journal of Experimental Medicine, 2023

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.

Kaiser FMP et al.

The Journal of Experimental Medicine, 2022

1–50 of 75 papers
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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."