Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion> ?p ?o ?g. }
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- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion type Assertion NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_head.
- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion description "[The fourth patient has a novel C to A transversion at nucleotide 31,290, which corresponds to replacement of codon 390 which is for Ala (GCA) in normal factor IX, to one for Glu (GAA) in a patient with moderately severe hemophilia B (factor IXChongquing3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_provenance.
- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion evidence source_evidence_literature NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_provenance.
- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion SIO_000772 2270538 NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_provenance.
- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion wasDerivedFrom befree-2016 NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_provenance.
- NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_assertion wasGeneratedBy ECO_0000203 NP990680.RAbZnpUknRaWLrw3CE7DN5Df-y9bunSlmir8L9rOdOByI130_provenance.