PMC9871383_01
Morphological characteristics of seven embryonic observed by time-lapse imaging.
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F1
Seven of them were normally fertilized, and all embryos were arrested at the 1- or 2-cell stage following culture (Figure 1).
A novel complex heterozygous mutation in PADI6 of the patient. (A) The missense mutation of (C) 1247T>C in the PADI6 gene; (B) The frameshift mutation of (C) 2009_2010del in the PADI6 gene.
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F2
Singer sequencing was used for verification, and the results were as follows: c. 1247T>C [p.Ile416Thr] in exon 12 of PADI6 (Figures 2A,C). 2009_2010del [p.Glu670GlyfsTer48] in exon 17 of PADI6 (Figure 2B).