Associated Papers
Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome.
Liu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T et al.
Neurogenetics, 2023
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