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Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletionsLydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.Pageof 4