Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.A321T
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NOTCH3

NM_000435.3:p.A321T

Associated Papers

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

Zhou H et al.

Molecular Genetics & Genomic Medicine, 2022

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 of Finnish patients with vascular cognitive impairment.

Mönkäre S et al.

European Journal of Human Genetics : Ejhg, 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

Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups.

Grami N et al.

Stroke, 2020

Shifting the CARASIL paradigm: report of a non-Asian family and literature review.

Menezes Cordeiro I et al.

Stroke, 2015

25712943 (PubMed )
Supplement: supplemental_material.pdf

CADASIL and CARASIL.

Tikka S et al.

Brain Pathology (zurich, Switzerland), 2014

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