Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Frontiers in molecular biosciences（2021）
关键词
haplotype analysis,interpretation of sequenced variants,Marfan syndrome,pre-implantation genetic testing,molecular genetic testing,FBN1
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