Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_assertion description "[We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_assertion evidence source_evidence_literature NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_assertion SIO_000772 15904436 NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_assertion wasDerivedFrom befree-20140225 NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_assertion wasGeneratedBy ECO_0000203 NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP880323.RA7rx45A7b_al2gMs6kkdSyT8eipNtYcYQzai8_8VnbP8130_provenance.