Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
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| Description | scientific article |
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author: Colin J. Ross Rutger J Meinsma Lida Zoetekouw Dirk Maurer Clara van Karnebeek Doreen Dobritzsch André B P van Kuilenburg Britt Drogemoller Wyeth Wasserman Maja Tarailo-Graovac |
| Publication date | April 24, 2018 |
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