http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#head http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#assertion http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#provenance http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#assertion http://rdf.disgenet.org/resource/gda/DGN55f02400518410449c20cc2eb6709c9c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7490 http://rdf.disgenet.org/resource/gda/DGN55f02400518410449c20cc2eb6709c9c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085215 http://rdf.disgenet.org/resource/gda/DGN55f02400518410449c20cc2eb6709c9c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#provenance http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#assertion http://purl.org/dc/terms/description [The coding region of WT1 gene was screened in 384 patients with POF and 6 novel variations were identified, including two missense mutations (p. Pro126Ser in exon1 and p. Arg370His in exon7) and four intronic variants (c.647-27C?>?T, c.647-13G?>?C, c.647-13G?>?A in intron1 and c.950?+?14T?>?C in intron 4).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#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/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26358501 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/CTD_human http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#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/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/dc/terms/created 2017-10-17T13:17:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1117935.RAwrE86_295bNShJgVQDbdfgIsJ992VeKX7oIefCzLUyU 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