Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion> ?p ?o ?g. }
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- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion type Assertion NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_head.
- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion description "[This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_provenance.
- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion evidence source_evidence_literature NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_provenance.
- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion SIO_000772 18978954 NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_provenance.
- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion wasDerivedFrom lhgdn-20090331 NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_provenance.
- NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_assertion wasGeneratedBy ECO_0000203 NP243351.RAOQUq5khHF2UcIn7qB8nDBgQZOK19ZsIC30kGfzONmII130_provenance.