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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Gaucher Disease and UGCG[original query]
Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
Human mutation 2013 Oct 34 (10): 1396-403.
Alfonso Pilar, Navascués Joaquín, Navarro Silvia, Medina Pilar, Bolado-Carrancio Alfonso, Andreu Vanesa, Irún Pilar, Rodríguez-Rey José Carlos, Pocoví Miguel, España Francisco, Giraldo Pil
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