Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion> ?p ?o ?g. }
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- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion type Assertion NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_head.
- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion description "[A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_provenance.
- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion evidence source_evidence_literature NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_provenance.
- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion SIO_000772 24750328 NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_provenance.
- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion wasDerivedFrom befree-2016 NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_provenance.
- NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_assertion wasGeneratedBy ECO_0000203 NP1175274.RA9Iv2mupckP3VpR24OJrjS4IEuRC6jq_QTvar5N--fSY130_provenance.