Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion description "[We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion evidence source_evidence_literature NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion SIO_000772 19481194 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion wasDerivedFrom befree-20140225 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion wasGeneratedBy ECO_0000203 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.