http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#head http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#provenance http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://rdf.disgenet.org/resource/gda/DGN1f95dab9def8cb49897ab199ae9f7f32 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/162514 http://rdf.disgenet.org/resource/gda/DGN1f95dab9def8cb49897ab199ae9f7f32 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0037274 http://rdf.disgenet.org/resource/gda/DGN1f95dab9def8cb49897ab199ae9f7f32 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#provenance http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://purl.org/dc/terms/description [We conclude that the G573S and G573C substitutions render the TRPV3 channel spontaneously active under normal physiological conditions, which in turn alters ion homeostasis and membrane potentials of skin keratinocytes, leading to hair loss and dermatitis-like skin diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17706768 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/dc/terms/created 2017-10-17T13:19:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1412699.RAVDeNhLkxjNZeZMaxc2ow4v8KwRQwJ2vQDelkiIEpF7M http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0