Identification of an individual with a SYNGAP1 pathogenic mutation in India
Vijaya Verma, Amit Mandora, Abhijeet Botre, James P. Clement
Topics & Concepts
Global developmental delayExome sequencingFrameshift mutationIntellectual disabilityAutismCompound heterozygosityAutism spectrum disorderGeneticsMicrocephalyMutationExomeBiologyPsychologyGenePhenotypeDevelopmental psychologyCellular transport and secretionGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways