Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C212G
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NOTCH3

NM_000435.3:p.C212G

Associated Papers

Disturbances of Ocular Circulation in Color Doppler Imaging, Retinal Changes and Electrophysiological Tests with Neuro-Ophthalmological Clinical Symptoms in the Course of CADASIL Syndrome-A Case Report.

Modrzejewska M et al.

Journal of Clinical Medicine, 2023

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.

Kim Y et al.

International Journal of Molecular Sciences, 2022

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.

Dorszewska J et al.

Folia Neuropathologica, 2020

Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.

Kim Y et al.

Medicina (kaunas, Lithuania), 2019

A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family.

Machowska-Sempruch K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2019

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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."