July 19, 2018Open Access

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

JRJulie W. RuttenLeiden University Medical Center BEBastian J. Van EijsdenLeiden University Medical Center MDMarco DueringUniversity of Basel

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Abstract

NOTCH3 pathogenic variant position is the most important determinant of CADASIL disease severity, with EGFr 7-34 pathogenic variant predisposing to a later onset of stroke and longer survival.

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Rutten et al. (Thu,) studied this question.

synapsesocial.com/papers/69d73487f07a12db70b8a49e https://doi.org/https://doi.org/10.1038/s41436-018-0088-3

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