Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion> ?p ?o ?g. }
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- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion type Assertion NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_head.
- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion description "[Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated `RP12` and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age <20 years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_provenance.
- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion evidence source_evidence_literature NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_provenance.
- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion SIO_000772 11389483 NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_provenance.
- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion wasDerivedFrom befree-20140225 NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_provenance.
- NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_assertion wasGeneratedBy ECO_0000203 NP658257.RABTz7Nyg90p0AijjT6ApXD0NqeUxOblZf-2mCXqHCm6A130_provenance.