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- source_evidence_literature type ECO_0000212 NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_assertion description "[New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_assertion evidence source_evidence_literature NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_assertion SIO_000772 12840783 NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_assertion wasDerivedFrom befree-20140225 NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_assertion wasGeneratedBy ECO_0000203 NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP345017.RA8rIKJdpN7O68LZl13htTTBeH6_xLbstYfVNEaZueJJs130_provenance.