Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.R77C
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PAX3

NM_181458.4:p.R77C

Associated Papers

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Amaro A et al.

Brain : a Journal of Neurology, 2025

The paired domain of Pax3 contains a putative homeodomain interaction pocket defined by cysteine scanning mutagenesis.

Apuzzo S et al.

Biochemistry, 2006

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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."