Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion description "[Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion evidence source_evidence_literature NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion SIO_000772 10486316 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion wasDerivedFrom befree-20150227 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion wasGeneratedBy ECO_0000203 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.