Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.E2143fs
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NOTCH2

NM_024408.4:p.E2143fs

Associated Papers

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Ekure EN et al.

American Journal of Medical Genetics. Part A, 2023

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 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

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co
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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."