Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C332Y
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NOTCH1

NM_017617.5:p.C332Y

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

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

Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.

Abby E et al.

Nature Genetics, 2023

36658434 (PubMed )
Supplement: 41588_2022_1280_MOESM4_ESM.xlsx › Sup_Table_10

Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle.

Yang N et al.

Genetics and Molecular Research : Gmr, 2014

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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."