Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_assertion description "[Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_assertion evidence source_evidence_literature NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_assertion SIO_000772 20034074 NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_assertion wasDerivedFrom befree-20150227 NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_assertion wasGeneratedBy ECO_0000203 NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.
- befree-20150227 importedOn "2015-02-27" NP401013.RA0kQwYwLK5Kq-BegkqBWvlep9SoJkxdXecvbwu730s4c130_provenance.