Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion description "[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion evidence source_evidence_literature NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion SIO_000772 17569090 NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion wasDerivedFrom befree-2016 NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion wasGeneratedBy ECO_0000203 NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.
- befree-2016 importedOn "2016-02-19" NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance.