Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion> ?p ?o ?g. }
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- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion type Assertion NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_head.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion wasGeneratedBy ECO_0000203 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion wasDerivedFrom befree-20140225 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion SIO_000772 20405026 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion evidence source_evidence_literature NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion description "[Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.