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Journal Articles Human Genetics Year : 2020

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

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hal-02500544 , version 1 (06-03-2020)

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Pauline Arnaud, Caroline Racine, Nadine Hanna, Julien Thevenon, Jean-Luc Alessandri, et al.. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. Human Genetics, 2020, 139 (4), pp.461-472. ⟨10.1007/s00439-019-02102-9⟩. ⟨hal-02500544⟩
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