Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I
1990 ◽
Vol 85
(1)
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pp. 282-290
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2008 ◽
Vol 398
(1-2)
◽
pp. 148-151
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2014 ◽
Vol 99
(2)
◽
pp. E356-E362
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