Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion> ?p ?o ?g. }
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- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion type Assertion NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_head.
- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion description "[Mutations in the myotubularin (MTM)-related protein 2 (MTMR2) gene are responsible for the severe autosomal recessive neuropathy Charcot-Marie-Tooth disease type 4B1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_provenance.
- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion evidence source_evidence_literature NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_provenance.
- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion SIO_000772 14530412 NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_provenance.
- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion wasDerivedFrom befree-20140225 NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_provenance.
- NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_assertion wasGeneratedBy ECO_0000203 NP716991.RA5cicFnWWApnZjxdEaoYeB1GObZ8saHO9oF-DFCtu2Rk130_provenance.