Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.T577A
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NOTCH3

NM_000435.3:p.T577A

Associated Papers

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

39201482 (PubMed )
Supplement: ijms-25-08796-s001.zip › ijms-3129956-supplementary.pdf

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.

Sun Y et al.

Medicine, 2019

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

Muiño E et al.

International Journal of Molecular Sciences, 2017

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

A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL.

Ge W et al.

Plos One, 2014

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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."