Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_assertion description "[Analysis of affected families allowed narrowing of the candidate region on chromosome 15q22.31, and mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_assertion evidence source_evidence_literature NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_assertion SIO_000772 21109227 NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_assertion wasDerivedFrom befree-20140225 NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_assertion wasGeneratedBy ECO_0000203 NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP731475.RAA-IJdARRgHW4TlXA9sdBALJ0rdKYxggUFoKF0KRKdGM130_provenance.