Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion wasGeneratedBy ECO_0000203 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion wasDerivedFrom befree-20150227 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion SIO_000772 11369620 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion evidence source_evidence_literature NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion description "[Three homozygous mutations were identified in this gene in 4 subjects with P5'N-1 deficiency: codon 98 GAT-->GTT, Asp-->Val (linked to a silent polymorphism codon 92, TAC-->TAT), codon 177, CAA-->TAA, Gln-->termination, and IVS9-1, G-->T. The latter mutation results in the loss of exon 9 (201 bp) from the cDNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.