Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R353H
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NOTCH1

NM_017617.5:p.R353H

Associated Papers

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a

Somatic mutations in facial skin from countries of contrasting skin cancer risk.

King C et al.

Nature Genetics, 2023

37537257 (PubMed )
Supplement: 41588_2023_1468_MOESM3_ESM.xlsx › Supp_Table_1

NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.

Michelini S et al.

Molecular Genetics & Genomic Medicine, 2021

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.

Agrawal N et al.

Science (new York, N.y.), 2011

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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."