Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion> ?p ?o ?g. }
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- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion type Assertion NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_head.
- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_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." NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_provenance.
- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion evidence source_evidence_literature NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_provenance.
- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion SIO_000772 15574464 NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_provenance.
- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion wasDerivedFrom befree-20140225 NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_provenance.
- NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_assertion wasGeneratedBy ECO_0000203 NP506714.RAjboAmtePtdhvTzhPd4CHtj8tLku_JhBVDFYKTVeOlLw130_provenance.