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

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https://hal-univ-rennes1.archives-ouvertes.fr/hal-02500544
Contributor : Xavier Chard-Hutchinson <>
Submitted on : Friday, March 6, 2020 - 10:01:20 AM
Last modification on : Friday, June 12, 2020 - 5:38:05 PM

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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, Springer Verlag, 2020, 139 (4), pp.461-472. ⟨10.1007/s00439-019-02102-9⟩. ⟨hal-02500544⟩

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