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
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib
Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.
Haliloğlu G et al.
Journal of Neuromuscular Diseases, 2024
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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