Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion> ?p ?o ?g. }
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- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion type Assertion NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_head.
- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion description "[Familial defective apolipoprotein B-100 (FDB) R3500Q is an autosomal co-dominant disorder caused by the substitution of glutamine for arginine at amino acid residue 3500 of the apolipoprotein B-100 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_provenance.
- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion evidence source_evidence_literature NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_provenance.
- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion SIO_000772 10795369 NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_provenance.
- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion wasDerivedFrom befree-20150227 NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_provenance.
- NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_assertion wasGeneratedBy ECO_0000203 NP244162.RAoux1DDUMlB_rGK0ldVxT2CPPD6otJ3OzOIg5DbHT-LY130_provenance.