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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMK2B

Variant:p.S235F

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CAMK2B

NM_001220.5:p.S235F

hg38:chr7:44242333 G>A

Associated Papers

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

Akita T et al.

Annals of Clinical and Translational Neurology, 2018

29560374 (PubMed )

Supplement: ACN3-5-280-s001.doc

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."