Varaico: Literature-Extracted Genetic Variants

Gene:ROBO4
Variant:p.R64C
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ROBO4

NM_019055.6:p.R64C

Associated Papers

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Bruenger CMH et al.

European Journal of Human Genetics : Ejhg, 2025

40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2

[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].

Pikó H et al.

Orvosi Hetilap, 2024

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Gould RA et al.

Nature Genetics, 2019

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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."