Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.V494I
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ACVR2B

NM_001106.4:p.V494I

Associated Papers

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

Kosaki R et al.

American Journal of Medical Genetics, 1999

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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."