Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.E2143*
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NOTCH2

NM_024408.4:p.E2143*

Associated Papers

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.

Mu Y et al.

Frontiers in Oncology, 2023

37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Zeng C et al.

Bmc Musculoskeletal Disorders, 2020

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Gu JM et al.

Joint Bone Spine, 2013

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.

Stathopoulos IP et al.

Bone, 2013

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B et al.

Nature Genetics, 2011

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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."