Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.
Johana KopčilováHana PtáčkováTereza KramářováLenka FajkusováKamila RéblováJiří ZemanTomáš HonzíkLucie ZdražilováJosef ZámečníkPatrícia BalážováKarin ViestováMiriam KolníkováHana HansikovaJana ZídkováPublished in: Journal of medical genetics (2024)
Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms. This knowledge is important for understanding the molecular nature of human diseases and allows us to improve strategies for identifying disease-causing mutations.