Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.E2290K
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NOTCH2

NM_024408.4:p.E2290K

Associated Papers

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

Kiel MJ et al.

The Journal of Experimental Medicine, 2012

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