Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion> ?p ?o ?g. }
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- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion type Assertion NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_head.
- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion description "[Mutations within the inosine 5'-monophosphate dehydrogenase 1 (IMPDH1) gene cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to progressive death of photoreceptors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_provenance.
- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion evidence source_evidence_literature NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_provenance.
- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion SIO_000772 18385099 NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_provenance.
- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion wasDerivedFrom befree-20140225 NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_provenance.
- NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_assertion wasGeneratedBy ECO_0000203 NP435372.RA6CTXFlHlEzIZFcqClgHITtiN6ldsoqG_mGpuo3ZWKs8130_provenance.