Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G289D
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NOTCH1

NM_017617.5:p.G289D

Associated Papers

Notch Pathway and Inherited Diseases: Challenge and Promise.

Reichrath J et al.

Advances in Experimental Medicine and Biology, 2020

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."