Associated Papers
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
Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ.
Mutoh H et al.
Journal of Neuroscience Research, 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 variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T et al.
Annals of Clinical and Translational Neurology, 2018
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