Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion description "[Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion evidence source_evidence_literature NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion SIO_000772 25730767 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion wasDerivedFrom befree-2016 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion wasGeneratedBy ECO_0000203 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.