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bibliographicCitation Yang M, Liu Y, Lin Z, Sun H, Hu T. A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly. Clinical Laboratory Analysis. 2022 Apr 18;36(5). doi: 10.1002/jcla.24440.
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title A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly
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