Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion> ?p ?o ?g. }
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- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion type Assertion NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_head.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion description "[The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion evidence source_evidence_curated NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion SIO_000772 18637800 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion wasDerivedFrom ctd_human-20150221 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion wasGeneratedBy ECO_0000218 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.