Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 7.

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Fig. 7. Whole-exome sequencing revealed the SATB2 gene variant (NM_001172509) in the c.1136A>C (p.Gln379Pro) on exon8 which was de novo variant of uncertain significance, and the VWF gene variant (NM_00055212) in the c.4585G>C (p.Asp1529His) on exon 28 which was derived from his father. These two variants were conserved among the different species.
Journal of Genetic Medicine 2022;19:76-84
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