Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion> ?p ?o ?g. }
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- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion type Assertion NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_head.
- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion description "[Limb girdle muscular dystrophy type 2I (LGMD2I) is due to mutations in the fukutin-related protein gene (FKRP), encoding a putative glycosyltransferase involved in alpha-dystroglycan processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_provenance.
- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion evidence source_evidence_literature NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_provenance.
- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion SIO_000772 17952692 NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_provenance.
- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion wasDerivedFrom befree-2016 NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_provenance.
- NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_assertion wasGeneratedBy ECO_0000203 NP636683.RAewECNi5z5yzg_9kBsBxoCxl7PEdJQjQoLCC6VPw32XY130_provenance.