Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C359W
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NOTCH1

NM_017617.5:p.C359W

Associated Papers

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Dombrowsky G et al.

Genome Medicine, 2026

41501857 (PubMed )
Supplement: 13073_2025_1587_MOESM1_ESM.xlsx › Table_S5

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

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

Integrative genome-wide analyses reveal the transcriptional aberrations in Japanese esophageal squamous cell carcinoma.

Takemoto A et al.

Cancer Science, 2021

Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Wei L et al.

Science Advances, 2021

33523857 (PubMed )
Supplement: abd7703_SM.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."