Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion> ?p ?o ?g. }
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- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion type Assertion NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_head.
- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion description "[Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_provenance.
- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion evidence source_evidence_literature NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_provenance.
- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion SIO_000772 9463307 NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_provenance.
- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion wasDerivedFrom befree-2016 NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_provenance.
- NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_assertion wasGeneratedBy ECO_0000203 NP1388570.RABToJ7CAClsAq-LMUptaW28FwEjRLSlhoRdrh3vopY_8130_provenance.