Varaico: Literature-Extracted Genetic Variants

Gene:AKAP4
Variant:p.R287H
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AKAP4

NM_003886.3:p.R287H

Associated Papers

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR et al.

Plos Genetics, 2016

27058611 (PubMed )
Supplement: pgen.1005963.s011.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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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."