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Fig. 2
Sanger sequencing of the novel EFTUD2 missense mutation. Whole?exome sequencing identified a novel EFTUD2 missense mutation (c.671G>T, p.Gly224Val) in a proband with mandibulofacial dysostosis with microcephaly (MFDM). (A) Sanger sequencing confirmed the EFTUD2 missense mutation (c.671G>T, p.Gly224Val) in blood samples from the proband; (B?D) the EFTUD2 missense mutation (c.671G>T, p.Gly224Val) was not detected in peripheral blood samples of the proband's parents and amniotic fluid samples of the parents? second baby. Black arrows indicate the point mutation (G>T)
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Full text @ J Clin Lab Anal