Rare splicing mutation in COL1A1 gene identified by whole...

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Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with Osteogenesis imperfecta type I followed by prenatal diagnosis: a case report and review of the literature

Gug, Cristina, Caba, Lavinia, Mozos, Ioana, Stoian, Dana, Atasie, Diter, Gug, Miruna, Gorduza, Eusebiu Vlad
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Journal:
Gene
DOI:
10.1016/j.gene.2020.144565
Date:
March, 2020
File:
PDF, 1.10 MB
2020
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