Varaico: Literature-Extracted Genetic Variants

Gene:ROBO4
Variant:p.Y280S
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ROBO4

NM_019055.6:p.Y280S

Associated Papers

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

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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