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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Bibliographic reference Gold, Wendy A ; Sobreira, Nara ; Wiame, Elsa ; Marbaix, Alexandre ; Van Schaftingen, Emile ; et. al. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.. In: American Journal of Medical Genetics. Part A, Vol. 9999, no.0, p. 1-5 (2017)
Permanent URL http://hdl.handle.net/2078.1/185733
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