Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
rs1554385111
in
CAMK2B
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
PMID 29100089
2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
PMID 29560374
2018
De novo
variants in
CAMK2A
and
CAMK2B
cause neurodevelopmental disorders.