Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_assertion type Assertion NP942731.RAyW69f7wKL2X2JR-ssAtg_lkCNqmCypu1O3BStB6pqug130_head.
- 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.