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    A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

    A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report by Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, Soraia Poloni, Fabiano Oliveira Poswar, Carolina Fischinger Moura de Souza, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz

    Published 2024-12-01
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