Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_assertion description "[The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which was reported in a patient with infantile GM1 gangliosidosis with the near-complete absence of enzyme activity, and c.367G>A (p.G123R), which is a novel frame-shift mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_assertion evidence source_evidence_literature NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_assertion SIO_000772 22371915 NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_assertion wasDerivedFrom befree-20150227 NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_assertion wasGeneratedBy ECO_0000203 NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP427431.RABV3yeQQGFul85hlxrTjn2x-zfghGS_At7mw3dXSxRN0130_provenance.