Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion> ?p ?o ?g. }
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- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion type Assertion NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_head.
- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion description "[The beta Malay substitution increases the homology of the cryptic splice site at codons 17/18/19 of the beta-globin gene to the donor consensus splice sequence, suggesting that the beta-thalassemia associated with this mutation may be due to the generation of a new splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_provenance.
- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion evidence source_evidence_literature NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_provenance.
- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion SIO_000772 2775294 NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_provenance.
- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion wasDerivedFrom befree-2016 NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_provenance.
- NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_assertion wasGeneratedBy ECO_0000203 NP1296705.RAjOGzZAwQeCYzVf7sZ-GwrBHRRIvI0mO74yvya-YLiZ4130_provenance.