PhenomeGene — Human Disease Gene Website SeriesCAPRIN1

Publications

Brusco A, Pavinato L. Neurogenetic Disorders and CAPRIN1. In: Martin, C.R., Preedy, V.R., Patel, V.B., Rajendram, R. (eds) Handbook of the Biology and Pathology of Mental Disorders. 2024. Springer, Cham. https://doi.org/10.1007/978-3-031-32035-470-1

Delle Vedove A et al. CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.Cell Mol Life Sci. 2022;79:526. https://doi.org/10.1007/s00018-022-04544-3

Jia X et al. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Sci Adv 8. 2022. https://doi.org/10.1126/sciadv.abo7112

Kaplanis J et al.  Evidence for 28 genetic disorders discovered by combining healthcare and research data.Nature. 2020; 586:757–762. https://doi.org/10.1038/s41586-020-2832-5

Pavinato L et al. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain. 2022 https://doi.org/10.1093/brain/awac278