Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion description "[We identified two germline mutations in SMARCB1 associated with the familial disease, c.233-1G>A and the novel c.207_208dupTA mutation, which both proved to affect the main SMARCB1 isoforms at the RNA level distinctly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion evidence source_evidence_literature NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion SIO_000772 22752724 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion wasDerivedFrom befree-20150227 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion wasGeneratedBy ECO_0000203 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.