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

Fig. 2.

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Fig. 2. Partial sequence of TTN and MYCN gene of patient and her parents with Sanger method. Sequences were presented with the Sanger dideoxy method for exons 251 and 238 of the TTN gene (NM_001267550.2) and exon 3 of the MCYN gene (NM_005378.6). The patient was shown maternally inherited heterozygous c.46816_46820delinsCAATGGTTTT (p.Glu15606Glnfs*22), insertion 10-bp (CAATGTTTT) concurrent with deletion at c.46816_46820 (GAACC), and paternally inherited heterozygous c.104724_104731dup (TTCCAGGT) (p.Tyr34911Phefs*7) in TTN gene. Heterozygous c.853C>T (p.Arg285Trp) in MCYN gene was detected as a de novo variant.
Journal of Genetic Medicine 2024;21:74-9 https://doi.org/10.5734/JGM.2024.21.2.74
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