Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.E606K
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NOTCH1

NM_017617.5:p.E606K

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

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

TP53 mutations determined by targeted NGS in breast cancer: a case-control study.

Andrikopoulou A et al.

Oncotarget, 2021

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

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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."