Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G2035fs
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NOTCH3

NM_000435.3:p.G2035fs

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Case Report: Inflammatory CADASIL phenotype associated with a rare cysteine-sparing NOTCH3 variant.

Madjidov A et al.

Frontiers in Human Neuroscience, 2025

Poor Prognosis among Radiation-Associated Bladder Cancer Is Defined by Clinicogenomic Features.

Wijetunga NA et al.

Cancer Research Communications, 2024

39113632 (PubMed )
Supplement: crc-24-0352_supplementary_table_s2_suppst2.xlsx › Supplementary__Table_S2

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

Characterization of activating mutations of NOTCH3 in T-cell acute lymphoblastic leukemia and anti-leukemic activity of NOTCH3 inhibitory antibodies.

Bernasconi-Elias P et al.

Oncogene, 2016

27157619 (PubMed )
Supplement: NIHMS766844-supplement-11.pdf
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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."