Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion type Assertion NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_head.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_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." NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_provenance.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion evidence source_evidence_literature NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_provenance.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion SIO_000772 15605948 NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_provenance.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion wasDerivedFrom befree-2016 NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_provenance.
- NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_assertion wasGeneratedBy ECO_0000203 NP473169.RArcJkgcp71efVRaxH3qrUqr5NO1BNqnn1ILiEP696-do130_provenance.