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- source_evidence_literature type ECO_0000212 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion description "[A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia.and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion evidence source_evidence_literature NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion SIO_000772 14534929 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion wasDerivedFrom lhgdn-20090331 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion wasGeneratedBy ECO_0000203 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.