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Authors whose works are in public domain in at least one jurisdiction

List of works by Luca Stefanucci

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Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations.

scientific article published on 13 January 2016
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

article
Non‐coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes

scientific article published in 2022
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant

scientific article published on 19 January 2021
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

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