Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.E242*
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PAX5

NM_016734.3:p.E242*

Associated Papers

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

Ghafouri-Fard S et al.

Molecular Neurobiology, 2023

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

Kaiser FMP et al.

The Journal of Experimental Medicine, 2022

Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2021

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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."