Deep intronic variation in splicing regulatory element of...

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European Journal of Human Genetics 2018 / 2

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège
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Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-017-0009-y
Date:
February, 2018
File:
PDF, 1.25 MB
english, 2018
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