Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.M1580fs
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NOTCH1

NM_017617.5:p.M1580fs

Associated Papers

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

Meester JAN et al.

Clinical Genetics, 2019

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

28512196 (PubMed )
Supplement: supplement_1.pdf
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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."