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Article

Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.

Neurologia - 1 Jun 2018

Roche Bueno J C, Arcos Sánchez C, Salgado Álvarez de Sotomayor F, Izquierdo-Álvarez S, Miramar Gallart M D, Solera García J

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Share to alpha-Glucosidases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28431840
DOI: 10.1016/j.nrl.2017.02.015

Genes

GAA

Variants

Provenance

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