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- source_evidence_literature type ECO_0000212 NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_assertion description "[The disease is frequently caused by intron 22 inversion mutation in FVIII gene in approximately 50% cases and by intron 1 inversion (Inv1) in 2% to 5% cases with severe hemophilia A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_assertion evidence source_evidence_literature NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_assertion SIO_000772 22371627 NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_assertion wasDerivedFrom befree-2016 NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_assertion wasGeneratedBy ECO_0000203 NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.
- befree-2016 importedOn "2016-02-19" NP963985.RAGi-OoHp8-gJPU6WfaIE-KEt5O3DrcJI-PLu83G6kBJ4130_provenance.