Varaico: Literature-Extracted Genetic Variants

Gene:AKAP9
Variant:p.R40K
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AKAP9

NM_005751.5:p.R40K

Associated Papers

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Wightman DP et al.

Scientific Reports, 2023

36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Lee SH et al.

Journal of Cardiovascular Development and Disease, 2022

36005429 (PubMed )
Supplement: jcdd-09-00265-s001.zip › jcdd-1819276-supplementary.pdf

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
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