Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion type Assertion NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_head.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion description "[Understanding of this group of disorders has advanced in recent years through the identification of causative mutations in various genes, most of which encode proteins of the sarcomeric Z-disc, including desmin, alphaB-crystallin, myotilin, ZASP and filamin C. This review focuses on the MFMs arising from defects in these proteins, summarising genetic and clinical features of the disorders and then discussing emerging understanding of the molecular pathogenic mechanisms leading to muscle fibre degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_provenance.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion evidence source_evidence_literature NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_provenance.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion SIO_000772 18764962 NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_provenance.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion wasDerivedFrom befree-20140225 NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_provenance.
- NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_assertion wasGeneratedBy ECO_0000203 NP524284.RAexEStg7Exsz3vONj-yDd8IGgqdeQh3Bx0R2sLsiI4Js130_provenance.