Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion description "[SHOX haploinsufficiency has been demonstrated in Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with disproportionate short stature, as well as in a variable proportion of cases with idiopathic short stature (ISS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion evidence source_evidence_literature NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion SIO_000772 21262861 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion wasDerivedFrom befree-2016 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion wasGeneratedBy ECO_0000203 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- befree-2016 importedOn "2016-02-19" NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.