Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion> ?p ?o ?g. }
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- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion type Assertion NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_head.
- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion wasGeneratedBy ECO_0000203 NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_provenance.
- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion wasDerivedFrom lhgdn-20090331 NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_provenance.
- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion SIO_000772 16384941 NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_provenance.
- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion evidence source_evidence_literature NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_provenance.
- NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_assertion description "[Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP214833.RAPyEn5fNwockUryCt0S1CO-iebAAU9bxtbmbQvhHaNhk130_provenance.