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

Crossref DOI link: https://doi.org/10.1038/s41431-017-0009-y

Published Online: 2018-02-08

Published Print: 2018-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Schalk, Audrey https://orcid.org/0000-0001-9276-4590
Greff, Géraldine

Drouot, Nathalie

Obringer, Cathy

Dollfus, Hélène

Laugel, Vincent

Chelly, Jamel

Calmels, Nadège
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Article History

Received: 31 March 2017

Revised: 19 July 2017

Accepted: 31 August 2017

First Online: 8 February 2018

Conflict of interest

: The authors declare that they no competing interest.