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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CAMK2B
Variant:
p.P212L
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CAMK2B
NM_001220.5:p.P212L
hg38:chr7:44242621 G>A
Frequencies & domains
Associated Papers
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S et al.
American Journal of Human Genetics,
2017
29100089 (PubMed
)
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