Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion type Assertion NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_head.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion wasGeneratedBy ECO_0000203 NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_provenance.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion wasDerivedFrom befree-2016 NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_provenance.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion SIO_000772 23144630 NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_provenance.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion evidence source_evidence_literature NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_provenance.
- NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_assertion description "[Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1027735.RAQ4-Q96pcfNPnB35K57fzD60ocBbeUxp2Ix4A4C-gu3I130_provenance.