Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P147R
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NOTCH3

NM_000435.3:p.P147R

Associated Papers

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

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Liao YC et al.

Plos One, 2015

CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.

Bentley P et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.

De Silva KR et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.

Singhal S et al.

Brain : a Journal of Neurology, 2004

Diagnostic strategies in CADASIL.

Markus HS et al.

Neurology, 2002

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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."