Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability

M. M. Rangel-Sosa, L. E. Figuera-Villanueva, I. A. González-Ramos, Y. X. Pérez-Páramo, L. A. Martínez-Jacobo, L. Arnaud-López, J. A. Nastasi-Catanese, A. M. Rivas-Estilla, K. A. Galán-Huerta, A. Rojas-Martínez, R. Ortiz-López, C. Córdova-Fletes

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Medicine & Life Sciences