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Brain : a Journal of Neurology|July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversityLindsay A Wilson, William L Macken, Luke D Perry, et al.Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, 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 3