Fig. 2
From: Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
Next-generation sequencing of TMEM38B in the patient revealed a homozygous splice site variant at NC_000009.12(NM_018112.3):c.660 + 1 G > A (II-1), and sequencing in the parents showed a heterozygous variant at the same site (I-1, I-2).
