Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion description "[Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion evidence source_evidence_literature NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion SIO_000772 15574464 NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion wasDerivedFrom befree-20150227 NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion wasGeneratedBy ECO_0000203 NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.
- befree-20150227 importedOn "2015-02-27" NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_provenance.