Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.M1I
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NOTCH2

NM_024408.4:p.M1I

Associated Papers

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.

Richman J et al.

Breast Cancer Research and Treatment, 2024

38709373 (PubMed )
Supplement: 10549_2024_7311_MOESM2_ESM.xlsx › Suppl_Table_5

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.

Gold J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl

Glioblastoma with novel EGFR mutations (T790M and exon 20 insertion) yet unresponsive to osimertinib: A case report.

Boongird A et al.

Genes, Chromosomes & Cancer, 2023

Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Ferraro F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34845035 (PubMed )
Supplement: pnas.2116427118.sd02.xlsx › mutations.2021.02.24

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.

Lodewijk GA et al.

Molecular Biology and Evolution, 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."