http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#head
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#assertion
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#provenance
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#assertion
http://rdf.disgenet.org/resource/gda/DGN77f33bfe60759fb18b750b400b0b6e53
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/64386
http://rdf.disgenet.org/resource/gda/DGN77f33bfe60759fb18b750b400b0b6e53
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0002452
http://rdf.disgenet.org/resource/gda/DGN77f33bfe60759fb18b750b400b0b6e53
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#provenance
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#assertion
http://purl.org/dc/terms/description
[In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#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/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23625376
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#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/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/dc/terms/created
2017-10-17T13:18:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1362212.RAWASrjzzM182sQapVC6zUtVZdxLnlNtgIELgjPTz5S4g
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