Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C1022F
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NOTCH3

NM_000435.3:p.C1022F

Associated Papers

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.

Park DG et al.

Cerebellum (london, England), 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

A family with atypical CADASIL.

Vedeler C et al.

Journal of Neurology, 2011

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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."