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?

Author:

Mora‐Roldan German A.12ORCID,Galaviz‐Hernandez Carlos3,Hiebert‐Froese Jose4,Hernandez Arturo56,Montes Luis1,Duran‐Pasten Maria L.6,Gazarian Karlen2,Zenteno Juan C.17ORCID

Affiliation:

1. Research Unit, Genetics Department Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico

2. Biomedical Research Institute, Department of Genomic Medicine National Autonomous University of Mexico Mexico City Mexico

3. Academia De Genómica, Instituto Politécnico Nacional—CIIDIR Durango Durango Mexico

4. Clinica Medica Sur del Carmen Durango Mexico

5. Institute of Cellular Physiology, Department of Cognitive Neuroscience National Autonomous University of Mexico Mexico City Mexico

6. National Laboratory of Channelopathies National Autonomous University of Mexico Mexico City Mexico

7. Department of Biochemistry, Faculty of Medicine National Autonomous University of Mexico Mexico City Mexico

Funder

Consejo Nacional de Ciencia y Tecnología

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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