Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion type Assertion NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_head.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_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." NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_provenance.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion evidence source_evidence_literature NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_provenance.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion SIO_000772 19019316 NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_provenance.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion wasDerivedFrom befree-2016 NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_provenance.
- NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_assertion wasGeneratedBy ECO_0000203 NP704571.RAgGJmb8_92IT-5nx82pTFNPirSu9ElIhhn6qm6j5uVxc130_provenance.