Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C428Y
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NOTCH3

NM_000435.3:p.C428Y

Associated Papers

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

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

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

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C et al.

Journal of Neuroscience Research, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

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