A new missense variant in RAB3GAP2 in a family with muscular dystrophy–short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

German A. Mora-Roldan, Carlos Galaviz-Hernandez, Jose Hiebert-Froese, Arturo Hernandez, Luis Montes, Maria L. Duran-Pasten, Karlen Gazarian, Juan C. Zenteno

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Medicine & Life Sciences