Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- befree-2016 importedOn "2016-02-19" NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_assertion wasGeneratedBy ECO_0000203 NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_assertion wasDerivedFrom befree-2016 NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_assertion SIO_000772 15383666 NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_assertion evidence source_evidence_literature NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.
- NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_assertion description "[Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP461155.RACSd6-v4t6nQQIC5N6y5KoAP2aHWTpaLv_dd4v50sKP8130_provenance.