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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature by Ana Victoria Marco Hernández, Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez, Francisco Martinez
Published 2021-11-01
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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy by Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
Published 2023-11-01
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