Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion> ?p ?o ?g. }
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- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion type Assertion NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_head.
- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion description "[The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance.
- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion evidence source_evidence_literature NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance.
- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion SIO_000772 16384941 NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance.
- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion wasDerivedFrom befree-20140225 NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance.
- NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_assertion wasGeneratedBy ECO_0000203 NP734363.RAC83EfKY3jP6NPIuW79UiHyvXeU89Ul-2thVEaXcuQ6o130_provenance.