Prenatal cases reflect the complexity of the col1a1/2 associated osteogenesis imperfecta

HIGHLIGHTS

• who: Kai Yang and colleagues from the Medical University Beijing, China have published the article: Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta, in the Journal: Genes 2022, 1578 of 27/07/2022
• how: Since the pathogenicity of the CANT1 Val186Ile variant was not certain the authors conducted the structural and molecular dynamics analysis.
• future: It was reported that dominant-negative mutations in COL1A1 were more likely to result in phenotypic variability but functional experiments are needed to test this theory and provide evidence of whether specific variations are . . .
  

   

  

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