Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion> ?p ?o ?g. }
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- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion type Assertion NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_head.
- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_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." NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_provenance.
- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion evidence source_evidence_literature NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_provenance.
- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion SIO_000772 19019316 NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_provenance.
- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion wasDerivedFrom befree-20150227 NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_provenance.
- NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_assertion wasGeneratedBy ECO_0000203 NP980088.RAADCA6WDBtx6SxSWxCUm_ONNSs3s0rK1B8O3j4-1jdeA130_provenance.