http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#head http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#provenance http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://rdf.disgenet.org/resource/gda/DGN384cb299eeda2b55a019b9a45b3b9d08 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23327 http://rdf.disgenet.org/resource/gda/DGN384cb299eeda2b55a019b9a45b3b9d08 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008925 http://rdf.disgenet.org/resource/gda/DGN384cb299eeda2b55a019b9a45b3b9d08 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#provenance http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://purl.org/dc/terms/description [Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/27694961 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/CTD_human http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/CTD_human http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/dc/terms/created 2017-10-17T13:18:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1257785.RAIqitsbd-n-W3ASte7V8d9etpvWzME7Z6ScR_xbDxR1s 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