Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q1656R
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NOTCH2

NM_024408.4:p.Q1656R

Associated Papers

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Li ZD et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Gilbert MA et al.

Human Mutation, 2019

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
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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."