Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_assertion description "[Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_assertion evidence source_evidence_literature NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_assertion SIO_000772 11055896 NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_assertion wasDerivedFrom befree-20140225 NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_assertion wasGeneratedBy ECO_0000203 NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP265007.RA4I5PgPH4a2a7i6N0T0z16ftvlfH3peOEZK4EruTVX2A130_provenance.