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- source_evidence_literature type ECO_0000212 NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_assertion description "[Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of alpha-dystroglycan and, indeed, abnormal glycosylation of this molecule is a common finding in all the respective conditions (Walker Warburg syndrome; Muscle-Eye-Brain disease; congenital muscular dystrophy type 1C and Limb girdle muscular dystrophy type 21; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_assertion evidence source_evidence_literature NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_assertion SIO_000772 15605948 NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_assertion wasDerivedFrom befree-20150227 NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_assertion wasGeneratedBy ECO_0000203 NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.
- befree-20150227 importedOn "2015-02-27" NP919505.RACyGwApl8SSoA57U_kNUorFB-HMrY60XQHyXiI6z0X1c130_provenance.