Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.T1098S
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NOTCH3

NM_000435.3:p.T1098S

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

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

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Dunn PJ et al.

Human Genomics, 2020

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

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.

Liu X et al.

Journal of the Neurological Sciences, 2015

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."