Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_assertion description "[Heterozygous mutations in the FGFR1 gene accompanied by a high frequency of cleft palate and other facial dysmorphisms were recently identified in 8% of a large KS cohort, yet the reproductive phenotype of KS patients harboring FGFR1 mutations has not been described.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_assertion evidence source_evidence_literature NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_assertion SIO_000772 16764984 NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_assertion wasDerivedFrom befree-20140225 NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_assertion wasGeneratedBy ECO_0000203 NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP249754.RAkluBKQBLVX-6T2pBCjrSaezUBsovIHym8lJxr2osjVU130_provenance.