Titin Copy Number Variations Associated with Dominant Inherited Phenotypes
Aurelien Perrin,Corinne Metay,Marco Savarese,Rabah Ben Yaou,German Demidov,Isabelle Nelson,Guilhem Sole,Yann Pereon,Enrico Silvio Bertini,Fabiana Fattori,Adele D'Amico,Federica Ricci,Mira Ginsberg,Andreea Seferian,Odile Boespflug-Tanguy,Laurent Servais,Francoise Chapon,Emmeline Lagrange,Karen Gaudon, Adrien Bloch, Robin Ghanem,Lucie Guyant-Marechal,Mridul Johari,Charles Van Goethem,Michel Fardeau,Raul Juntas Morales,Casie A. Genetti,Minttu Marttila,Michel Koenig,Alan Beggs,Bjarne Udd,Gisele Bonne,Mireille Cossee JOURNAL OF MEDICAL GENETICS（2024）
Key words
genetics,genomics,human genetics,neuromuscular diseases
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