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- source_evidence_literature type ECO_0000212 NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_assertion description "[We identified a member of the BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of nemaline rods and core lesions in the skeletal myofibers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_assertion evidence source_evidence_literature NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_assertion SIO_000772 21109227 NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_assertion wasDerivedFrom befree-20140225 NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_assertion wasGeneratedBy ECO_0000203 NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP544094.RA76F-WjgGcLlgW9w_BUEGl1Y_G1RfzwP1zlu_k4AQK5s130_provenance.