Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_assertion description "[Three partial deletions of the factor VIII gene were identified and characterized: a 4.8 kilobase (kb) deletion eliminating exon 10 in one patient with severe haemophilia A without inhibitor, a 6.1 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in two related severe haemophiliacs, but only one of them produced inhibitor, and a 4.6 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in a severe haemophiliac with high-titre inhibitor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_assertion evidence source_evidence_literature NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_assertion SIO_000772 1643024 NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_assertion wasDerivedFrom befree-2016 NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_assertion wasGeneratedBy ECO_0000203 NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.
- befree-2016 importedOn "2016-02-19" NP532329.RAeQfVdABCvZjYUGFtnX39-shjLxz7FgSNUsPlM8uyYi4130_provenance.