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 prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Gowans LJ et al.
Molecular Genetics & Genomic Medicine, 2017
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