http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#head http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#assertion http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#provenance http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#assertion http://rdf.disgenet.org/resource/gda/DGNaf2f8c98bc59b4e872b5950fda86333a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7068 http://rdf.disgenet.org/resource/gda/DGNaf2f8c98bc59b4e872b5950fda86333a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2940786 http://rdf.disgenet.org/resource/gda/DGNaf2f8c98bc59b4e872b5950fda86333a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#provenance http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#assertion http://purl.org/dc/terms/description [We found a novel mutation in THRB gene in position 1216 (G to A transition, codon 311) resulting in novel Glu-311-Lys (p.E311K) substitution, homozygous in proband presenting with severe symptoms of RTH and heterozygous in both of her healthy parents, thus suggesting autosomal recessive mode of inheritance. p.E311K substitution was not found in 50 healthy, unrelated individuals. p.E311K was shown to be deleterious by SDM, PolPhen, and SNAP software.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#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/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22696245 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#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/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/dc/terms/created 2017-10-17T13:16:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1022250.RAw5EKtHHxP9hN5V1wt4wneD3AplFfcH2jq8BgkcfqUGE 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