Varaico: Literature-Extracted Genetic Variants

Gene:PBX3
Variant:p.A136V
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PBX3

NM_006195.6:p.A136V

Associated Papers

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects.

Farr GH et al.

Disease Models & Mechanisms, 2018

Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and risk of myocardial infarction and all-cause mortality in people with type 1 and type 2 diabetes.

Mohammedi K et al.

Cardiovascular Diabetology, 2015

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Longoni M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8

Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.

Arrington CB et al.

European Journal of Medical Genetics, 2012

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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."