A NOTCH3 homozygous nonsense mutation in familial Sneddon...

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A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

Greisenegger, Elli Katharine, Llufriu, Sara, Chamorro, Angel, Cervera, Alvaro, Jimenez-Escrig, Adriano, Rappersberger, Klemens, Marik, Wolfgang, Greisenegger, Stefan, Stögmann, Elisabeth, Kopp, Tamar
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Journal:
Journal of Neurology
DOI:
10.1007/s00415-020-10081-5
Date:
September, 2020
File:
PDF, 890 KB
2020
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