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Paper Details

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
BMC Med Genet
6
2020
Author NameAffiliation
Philippe FroguelUniversity Lille, CNRS, Institut Pasteur de Lille
Philippe FroguelSchool of Public Health, Imperial College
Khalid A Fakhro
Khalid A FakhroSidra Medical and Research Center
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Release 1.2