A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report
| Autor: | Sobrinho, Lívia Maria Ferreira, Silva, Thiago Oliveira, Refosco, Lilia Farret, Poloni, Soraia, Poswar, Fabiano Oliveira, de Souza, Carolina Fischinger Moura, Sperb-Ludwig, Fernanda, Schwartz, Ida Vanessa Doederlein |
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| Zdroj: | In Molecular Genetics and Metabolism Reports December 2024 41 |
| Databáze: | ScienceDirect |
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