Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion> ?p ?o ?g. }
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- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion type Assertion NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_head.
- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion description "[Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_provenance.
- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion evidence source_evidence_literature NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_provenance.
- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion SIO_000772 19019316 NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_provenance.
- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion wasDerivedFrom befree-20140225 NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_provenance.
- NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_assertion wasGeneratedBy ECO_0000203 NP487053.RALiE6XTIRp5zAHIj7Dt_UV4ltBedvYwCPONt4DeDd_Mg130_provenance.