Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion wasGeneratedBy ECO_0000218 NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion wasDerivedFrom uniprot-20150221 NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion SIO_000772 9402962 NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion evidence source_evidence_curated NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.
- NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion description "[Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu 410 Asp) in the helix termination motif of the type II hair keratin hHb6 have recently been identified in monilethrix patients of two unrelated families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance.