The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.

doi:10.1007/s00415-023-11909-6

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Article

The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.

Journal of neurology - 1 Nov 2023

Lin Eugene, Kuo Po-Hsiu, Liu Yu-Li, Wang Tso-Jen, Yang Albert C, Tsai Shih-Jen

Abstract excerpt

BACKGROUND: The cysteine-altering variants in NOTCH3 have been suggested to be associated with stroke, dementia, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), where aberrant blood pressure levels represent the characteristics of these diseases. We aimed to assess whether the cysteine-altering p.Arg544Cys (p.R544C; rs201118034) variant and common single...

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PMID: 37526664
DOI: 10.1007/s00415-023-11909-6

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