<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Anna-Elina Lehesjoki, Wenjuan Chen et al.|Journal of Medical Genetics|2017Cited by 254
<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Claudia Raveli, Sara A. Lewis et al.|Brain|2023Cited by 7