Varaico: Literature-Extracted Genetic Variants

Gene:CAMK2B
Variant:p.L443V
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CAMK2B

NM_001220.5:p.L443V

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.

Horii Y et al.

European Journal of Medical Genetics, 2023

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable3.CHN_DNM
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