Varaico: Literature-Extracted Genetic Variants

Gene:ROBO4
Variant:p.G686Splc
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ROBO4

NM_019055.6:p.G686Splc

Associated Papers

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.

Jaouadi H et al.

Journal of Translational Medicine, 2023

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."