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. 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982
COL1A2
OI 1 OI 2 OI 3 OI 4 Total
Frameshift 1 1
Splicing 1 2 3
In-frame deletion 1 1
In-frame insertion 1 1
Missense 3 10 10 23
Total 3 (10%) 0 (0%) 12 (42%) 14 (48%) 29