Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.G459S
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PAX7

NM_001135254.2:p.G459S

Associated Papers

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Ganassi M et al.

Cell Death & Disease, 2026

41611663 (PubMed )
Supplement: 41419_2025_8358_MOESM7_ESM.xlsx › Sheet1

The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis.

Wang M et al.

Cell Regeneration (london, England), 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."