Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion> ?p ?o ?g. }
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- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion type Assertion NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_head.
- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion description "[Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_provenance.
- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion evidence source_evidence_literature NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_provenance.
- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion SIO_000772 9432020 NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_provenance.
- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion wasDerivedFrom befree-20150227 NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_provenance.
- NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_assertion wasGeneratedBy ECO_0000203 NP231766.RAj53cTOEShUHZGK5KO-szy855fCPPHtE2IsDsJI5bS4c130_provenance.