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Journal: Diagnostics, 2020
Volume: 10
Number: 296

Article: Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea
Authors: by So Young Kim, Da-hye Lee, Jin Hee Han and Byung Yoon Choi
Link: https://www.mdpi.com/2075-4418/10/5/296

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