Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_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." NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_assertion evidence source_evidence_literature NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_assertion SIO_000772 19019316 NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_assertion wasDerivedFrom befree-20150227 NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_assertion wasGeneratedBy ECO_0000203 NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP942756.RAg49jYG3Jlo6wgpfoaf-xukgHphg7VtSEdz-y30dhxBs130_provenance.