Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion> ?p ?o ?g. }
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- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion type Assertion NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_head.
- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion description "[Six of them are an amber mutation in codon 90 (GAG to TAG), a four-base-pair deletion in codons 41 and 42 causing premature termination due to frameshift, a C-T substitution at position 654 of IVS-2, a G-A substitution at position 1 of IVS-2 and a C-G substitution at position 848 of IVS-2, leading to splicing defects, and an ocher mutation (GAA-TAA) in codon 121 causing a thalassemia intermedia phenotype with inclusion body formation in erythrocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_provenance.
- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion evidence source_evidence_literature NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_provenance.
- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion SIO_000772 8091935 NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_provenance.
- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion wasDerivedFrom befree-2016 NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_provenance.
- NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_assertion wasGeneratedBy ECO_0000203 NP1331940.RA1ZtCC3H2TXf7V4M2dGSjEVZ043XFNqXoOORXqhSIrHk130_provenance.