Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion type Assertion NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_head.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_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." NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_provenance.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion evidence source_evidence_literature NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_provenance.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion SIO_000772 19019316 NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_provenance.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion wasDerivedFrom befree-20150227 NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_provenance.
- NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_assertion wasGeneratedBy ECO_0000203 NP942732.RARez1qK52QcyY8De4lMl3IvJXZAWRZx5-JlfZ3wi5Pwg130_provenance.