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- source_evidence_literature type ECO_0000212 NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_assertion wasGeneratedBy ECO_0000203 NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_assertion wasDerivedFrom befree-20140225 NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_assertion SIO_000772 18512229 NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_assertion evidence source_evidence_literature NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_assertion description "[OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP476982.RAkUGW65xpEmfBE_O4rh9Q254N_r7NeILn0XDDccDC28I130_provenance.