Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.S746F
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ANKRD27

NM_032139.3:p.S746F

Associated Papers

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis.

Debiec R et al.

Molecular Genetics & Genomic Medicine, 2020

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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."