Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion> ?p ?o ?g. }
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- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion type Assertion NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_head.
- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion wasGeneratedBy ECO_0000218 NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.
- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion wasDerivedFrom uniprot-20130724 NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.
- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion SIO_000772 11525883 NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.
- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion evidence source_evidence_curated NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.
- NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion description "[This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutation in the exon 8 with LGMD1B phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.