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 |
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Zdroj: | Human Molecular Genetics; 8/15/2022, Vol. 31 Issue 16, p2766-2778, 13p |
Databáze: | Complementary Index |
Externí odkaz: |
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