A new mutational hotspot in the SKI gene in the context of...

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Human Genetics 2020 / 1

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

Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laure
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Language:
english
Journal:
Human Genetics
DOI:
10.1007/s00439-019-02102-9
Date:
January, 2020
File:
PDF, 1.23 MB
english, 2020
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