Genome sequencing reveals a novel genetic mechanism...

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  • Genome sequencing reveals a novel genetic mechanism...

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

van Kuilenburg, André B.P., Tarailo-Graovac, Maja, Meijer, Judith, Drogemoller, Britt, Vockley, Jerry, Maurer, Dirk, Dobritzsch, Doreen, Ross, Colin J., Wasserman, Wyeth, Meinsma, Rutger, Zoetekouw, L
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23538
Date:
April, 2018
File:
PDF, 988 KB
english, 2018
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