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- source_evidence_literature type ECO_0000212 NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_assertion description "[This includes the discovery that the pathological changes in atypical FTLD with ubiquitinated inclusions, neuronal intermediate filament inclusion disease, and basophilic inclusion body disease are immunoreactive for the fused in sarcoma (FUS) protein, resulting in the creation of a new molecular subgroup (FTLD-FUS), and studies clarifying the functional consequences of pathogenic CHMP2B mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_assertion evidence source_evidence_literature NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_assertion SIO_000772 21603977 NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_assertion wasDerivedFrom befree-2016 NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_assertion wasGeneratedBy ECO_0000203 NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.
- befree-2016 importedOn "2016-02-19" NP896090.RAboQKIlMKN77zNnF-ffQugycJOR7gHUZ53QfhgSJHyRc130_provenance.