http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_head
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://identifiers.org/ncbigene/3892
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0546966
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGNe4fc7ae9fbe838cd9401f95f59be37a5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3892
http://rdf.disgenet.org/resource/gda/DGNe4fc7ae9fbe838cd9401f95f59be37a5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0546966
http://rdf.disgenet.org/resource/gda/DGNe4fc7ae9fbe838cd9401f95f59be37a5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9402962
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://purl.org/pav/importedOn
2015-02-21
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/dc/terms/created
2015-08-25T14:37:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0