Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.
Zhang KK et al.
Annals of Indian Academy of Neurology, 2024
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
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S11.xls › Sheet1
Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys).
Dwyer BK et al.
Frontiers in Pharmacology, 2022
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.
Krgovic D et al.
Frontiers in Molecular Neuroscience, 2022
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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