Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.S84S
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NOTCH3

NM_000435.3:p.S84S

Associated Papers

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

38176524 (PubMed )
Supplement: mmc1.doc

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.

Malik R et al.

Brain : a Journal of Neurology, 2021

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

33109952 (PubMed )
Supplement: cm9-134-178-s001.pdf

CADASIL and CARASIL.

Tikka S et al.

Brain Pathology (zurich, Switzerland), 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."