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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Autor: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana
Zdroj: Human Molecular Genetics; 8/15/2022, Vol. 31 Issue 16, p2766-2778, 13p
Databáze: Complementary Index
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