Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P200_S204delins
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NOTCH3

NM_000435.3:p.P200_S204delins

Associated Papers

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Associated With a Novel In-Frame Mutation in the NOTCH3 Gene in a Japanese Patient.

Takeshi Y et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2020

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.

Kunii M et al.

Clinical Genetics, 2018

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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."