Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion> ?p ?o ?g. }
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- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion type Assertion NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_head.
- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion wasGeneratedBy ECO_0000203 NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_provenance.
- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion wasDerivedFrom befree-20140225 NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_provenance.
- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion SIO_000772 16919951 NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_provenance.
- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion evidence source_evidence_literature NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_provenance.
- NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_assertion description "[Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP769952.RAb5lx-lxNKY522Xdum2T_vSaifGZqXgJcc3YRr4WIo_U130_provenance.