Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion> ?p ?o ?g. }
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- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion type Assertion NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_head.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion description "[Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral body abnormalities (platyspondyly, end-plate indentations), hip dysplasia and brachydactyly type E. Here, we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen in an affected Chinese individual with SPD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion evidence source_evidence_literature NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion SIO_000772 23545312 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion wasDerivedFrom befree-20140225 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion wasGeneratedBy ECO_0000203 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.