Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.T445M
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NOTCH1

NM_017617.5:p.T445M

Associated Papers

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

Comprehensive Characterization of Human Lung Large Cell Carcinoma Identifies Transcriptomic Signatures with Potential Implications in Response to Immunotherapy.

Ramos-Paradas J et al.

Journal of Clinical Medicine, 2022

35329826 (PubMed )
Supplement: jcm-11-01500-s001.zip › J_Ramos-Paradas_et_al.__Table_S2.xlsx › Molecular_alterations_TST170

Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Shen F et al.

Frontiers in Oncology, 2022

35814426 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S2

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

Girdauskas E et al.

Plos One, 2018

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

Girdauskas E et al.

European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2017

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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."