Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion type Assertion NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_head.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion description "[The mother of the two patients with thalassaemia intermedia was heterozygous for beta-thalassaemia (codon 39 nonsense mutation), while the father had thalassaemia-like red cell indices, an increased alpha/non alpha chain synthesis ratio, a slight increase of HbF and a low HbA2 level, but showed entirely normal beta-globin gene sequences, apart from the complex rearrangement (-T +ATA) at position -530 5' to the CAP site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_provenance.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion evidence source_evidence_literature NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_provenance.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion SIO_000772 1643026 NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_provenance.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion wasDerivedFrom befree-2016 NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_provenance.
- NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_assertion wasGeneratedBy ECO_0000203 NP532336.RA86YPeBR1gR1txfTU7lx3iK5qn7W0xaH9FiK9GqYQnfc130_provenance.