Novel de novo variant in EBF3...

Molecular Case Studies 2017 / 05 Vol. 3; Iss. 3

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric
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Volume:
3
Language:
english
Journal:
Molecular Case Studies
DOI:
10.1101/mcs.a001743
Date:
May, 2017
File:
PDF, 979 KB
english, 2017
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