Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion> ?p ?o ?g. }
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- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion type Assertion NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_head.
- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion description "[A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_provenance.
- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion evidence source_evidence_literature NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_provenance.
- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion SIO_000772 25729975 NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_provenance.
- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion wasDerivedFrom befree-2016 NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_provenance.
- NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_assertion wasGeneratedBy ECO_0000203 NP1267362.RAIfyuuUQjxwKMM1sa1W7868w1eF0WNkzd6vIU78XWmQk130_provenance.