Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G557Splc
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NOTCH1

NM_017617.5:p.G557Splc

Associated Papers

Does radiofrequency ablation of the lower oesophagus allow for clonal expansion of highly mutated neosquamous epithelium?

Akarca FG et al.

Bmj Oncology, 2023

39886511 (PubMed )
Supplement: bmjonc-2023-000089supp002.xlsx › Supp_Table_2

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."