M. E. Rodr?Guez Garc?A
AuthID: R-00K-S25
1
TITLE: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
AUTHORS: Rodríguez García, ME; Cotrina Vinagre, FJ; Sánchez Calvin, MT; de Aragón, AM; de Las Heras, RS; Dinman, JD; de Vries, BBA; Nabais Sá, MJ; Quijada Fraile, P; Martínez Azorín, F;
PUBLISHED: 2023, SOURCE: Journal of Human Genetics
AUTHORS: Rodríguez García, ME; Cotrina Vinagre, FJ; Sánchez Calvin, MT; de Aragón, AM; de Las Heras, RS; Dinman, JD; de Vries, BBA; Nabais Sá, MJ; Quijada Fraile, P; Martínez Azorín, F;
PUBLISHED: 2023, SOURCE: Journal of Human Genetics
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