Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion> ?p ?o ?g. }
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- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion type Assertion NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_head.
- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion description "[The severity of clinical expression seems to be modulated by coexisting alpha thalassaemia: the severely affected children have a normal complement of alpha globin genes with an unusual genotype (-alpha 3.7/alpha alpha alpha 3-7), while their father, who carries the abnormal gene with minimal symptoms, has homozygous alpha+ thalassaemia (-alpha 3.7/-alpha 3.7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_provenance.
- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion evidence source_evidence_literature NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_provenance.
- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion SIO_000772 8280608 NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_provenance.
- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion wasDerivedFrom befree-20140225 NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_provenance.
- NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_assertion wasGeneratedBy ECO_0000203 NP618836.RABkoq-KEKoo93OSvxg9Mlx4Svv6IJav71G4syKj15T0o130_provenance.