Autor: Yoon, E., Lee, J. K., Park, T. K., Chang, S.-A., Huh, J., Kim, J.-W., Kim, D.-K., Jang, J.-H.
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Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
Background Despite the 2015 American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) guideline, many variants of FBN1 gene remain inconclusive. In line with publication of the FBN1-specific variant interpre…