Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.
Horii Y et al.
European Journal of Medical Genetics, 2023
Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.
Borghi R et al.
Neuroscience and Biobehavioral Reviews, 2023
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S et al.
American Journal of Medical Genetics. Part A, 2020
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S et al.
American Journal of Human Genetics, 2017
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