http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#Head http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://www.nanopub.org/nschema#hasAssertion http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://www.nanopub.org/nschema#hasProvenance http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#provenance http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://www.nanopub.org/nschema#hasPublicationInfo http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#pubinfo http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://purl.org/nanopub/x/asSentence http://purl.org/aida/In+Ullrich+syndrome%2C+a+heterozygous+G-to-A+substitution+at+position+%2B5+in+intron+23+%26+the+corresponding+heterozygous+6-bp+deletion+in+exon+26+which+deleted+1+of+the+2+tandem+repeats+of+the+sequence+CATCGG+in+nt+2268-2273+%26+2274-2279+in+COL6A2+ORF. http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#about http://purl.uniprot.org/taxonomy/9606 http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#about http://www.ncbi.nlm.nih.gov/gene/1292 http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.org/nanopub/x/UnderspecifiedAssertion http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#provenance http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://www.w3.org/ns/prov#hadPrimarySource http://www.ncbi.nlm.nih.gov/pubmed/14981181 http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#assertion http://www.w3.org/ns/prov#wasDerivedFrom ftp://ftp.ncbi.nih.gov/gene/GeneRIF/generifs_basic.gz http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw#pubinfo http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://purl.org/dc/terms/created 2014-06-16T13:47:00Z http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://purl.org/dc/terms/isPartOf http://krauthammerlab.med.yale.edu/nanopub/NanopubsFromGeneRIF http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://purl.org/pav/createdBy http://orcid.org/0000-0002-1267-0234 http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://purl.org/pav/version 1.3 http://krauthammerlab.med.yale.edu/nanopub/GeneRIF118921.RAUMfXTnpFB4QT8dYwreW4OtqrV_plST8SmgUb7yce-mw http://www.w3.org/2000/01/rdf-schema#seeAlso http://dx.doi.org/10.1007/978-3-642-38288-8_33