A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
Journal Information
Full Title: BMC Med Genet
Abbreviation: BMC Med Genet
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"the variant reported in here is available in the clinvar repository with accession id: scv001251173."
"Competing interests The authors declare that they have no conflict of interest."
"Funding This study was funded by grants from the Agence Nationale de la Recherche (ANR) (ANR-11-LABX-0070_TRANSPLANTEX), the INSERM (UMR_S 1109), the Institut Universitaire de France (IUF), all the University of Strasbourg (IDEX UNISTRA), the European regional development fund (European Union) INTERREG V program (project n°3.2 TRIDIAG) and MSD-Avenir grant AUTOGEN. No funders participated in the design of the study; the collection, analysis, and interpretation of data; or the writing of the manuscript."
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Last Updated: Aug 05, 2025