Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.A882fs
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NOTCH1

NM_017617.5:p.A882fs

Associated Papers

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.

Meester JAN et al.

Clinical Genetics, 2019

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.

Kerstjens-Frederikse WS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."