[The clinical heterogeneity of Pompe disease is explained by the kind and severity of mutations in the GAA gene with 107 sequence variations (95 being novel) discovered; but secondary factors, as yet unknown, have a substantial impact.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE