Genetic & Genomic MedicineNeurobiology of DiseasePeer-reviewed
Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy
Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero…·Marina Mitjans
This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.
2 citationstop 3%