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- source_evidence_literature type ECO_0000212 NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_assertion description "[Molecular diagnosis is provided by the identification of a mutation in the OPA1 gene (75% of DOA patients) or in the OPA3 gene (1% of patients).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_assertion evidence source_evidence_literature NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_assertion SIO_000772 22776096 NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_assertion wasDerivedFrom befree-20140225 NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_assertion wasGeneratedBy ECO_0000203 NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP614775.RAKLS9p_dZ1j3kEylKu1AVHc0kUhTlefV4GJTzyj2fDh0130_provenance.