Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C554F
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NOTCH3

NM_000435.3:p.C554F

Associated Papers

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Cho BPH et al.

Journal of the American Heart Association, 2024

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

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

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Cho BPH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf

Whole-Exome Sequencing of an Exceptional Longevity Cohort.

Nygaard HB et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 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."