Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.G2447G
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NOTCH2

NM_024408.4:p.G2447G

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Niwinska A et al.

Diagnostics (basel, Switzerland), 2020

32731384 (PubMed )
Supplement: diagnostics-10-00523-s001.zip › diagnostics-851816-supplementary.xlsx › Supplementary_Table_S2

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R et al.

American Journal of Human Genetics, 2006

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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."