Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G481Splc
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NOTCH1

NM_017617.5:p.G481Splc

Associated Papers

Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.

Zaitsu S et al.

International Journal of Molecular Sciences, 2024

38928057 (PubMed )
Supplement: ijms-25-06351-s001.zip › ijms-3029491-supplementary.pdf

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Lin I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370823 (PubMed )
Supplement: media-1.xlsx › Table_S5_CHIPVAFlt03

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

Debiec RM et al.

Heart (british Cardiac Society), 2022

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.

Luo X et al.

Frontiers in Genetics, 2020

32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes

Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma.

Chan JYK et al.

F1000research, 2018

Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Sharma S et al.

Oncotarget, 2016

27626698 (PubMed )
Supplement: oncotarget-07-68833-s002.xlsx › All4CLLSamples
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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."