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Updated: Sep 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant

Jeongyeon Hwang1, Ayuko Iverson2, Amy Woroch2

  • 1The Barbara and Maurice Deane Center for Wellness and Cognitive Health, Department of Neurology, Icahn School of Medicine at Mount Sinai, 5 East 98 Street, 7th Floor, New York, NY, 10029, USA. jhwang22@mgh.harvard.edu.

Neurogenetics
|September 2, 2026
PubMed

Keywords:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)Cys-altering NOTCH3 variantsVariable penetrancep.Arg1231Cys variant

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