Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.L78del1
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NOTCH3

NM_000435.3:p.L78del1

Associated Papers

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."