Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R1683W
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NOTCH1

NM_017617.5:p.R1683W

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_S3

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Debiec RM et al.

Heart (british Cardiac Society), 2022

35288444 (PubMed )
Supplement: heartjnl-2021-320428supp001.pdf

Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Abdulla FR et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2022

34977845 (PubMed )
Supplement: mmc1.xlsx › Table_1

Discovery of biomarkers predictive of GSI response in triple-negative breast cancer and adenoid cystic carcinoma.

Stoeck A et al.

Cancer Discovery, 2014

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