Associated Papers
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.
Torri F et al.
Clinical Genetics, 2026
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker.
Gautam M et al.
Annals of Clinical and Translational Neurology, 2026
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
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