A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

por Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
Publicado 2019