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

Virginia Garcia-Solaesa1, Pablo Serrano-Lorenzo2, Maria Antonia Ramos-Arroyo3

  • 1Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, ma.ramos.arroyo@navarra.es (M.A.R.-A.). virginia.garcia.solaesa@navarra.es.

Genes
|October 30, 2019
PubMed

Keywords:
PGK1 deficiencyabnormalities in mRNA splicingmissense variantmyopathic formphosphoglycerate kinase 1 gene (PGK1)

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