Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.S2486fs
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NOTCH1

NM_017617.5:p.S2486fs

Associated Papers

Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.

Thomas QD et al.

Cancer, 2025

40297960 (PubMed )
Supplement: CNCR-131-e35882-s001.xlsx › Sup_Table_4

Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.

Zhu B et al.

Frontiers in Oncology, 2024

38894864 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Notch activation leads to loss of myoepithelial differentiation and poor outcome in solid adenoid cystic carcinoma.

Zhang Y et al.

Oral Diseases, 2020

Notch Pathway and Inherited Diseases: Challenge and Promise.

Reichrath J et al.

Advances in Experimental Medicine and Biology, 2020

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."