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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Perez, Yonatan, Kadir, Rotem, Volodarsky, Michael, Noyman, Iris, Flusser, Hagit, Shorer, Zamir, Gradstein, Libe, Birnbaum, Ramon Y, Birk, Ohad SLanguage:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2015-103352
Date:
November, 2015
File:
PDF, 698 KB
english, 2015