Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
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J. T. Dunnen | I. Fokkema | A. Gonçalves | Rosário Santos | A. Cabral | I. Soares-Silva | I. Fineza | A. Guimarães | J. Oliveira | Luésa Diogo | L. Galán