VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions von Mathó, Cecilia, Fernández, María Celia, Bonanata, Jenner, Liu, Xian-De, Martin, Ayelen, Vieites, Ana, Sansó, Gabriela, Barontini, Marta, Jonasch, Eric, Coitiño, E Laura, Pennisi, Patricia Alejandra

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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency von Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A

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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency von Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, Del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A

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