Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion> ?p ?o ?g. }
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- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion type Assertion NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_head.
- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_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." NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_provenance.
- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion evidence source_evidence_literature NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_provenance.
- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion SIO_000772 11389483 NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_provenance.
- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion wasDerivedFrom befree-20150227 NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_provenance.
- NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_assertion wasGeneratedBy ECO_0000203 NP872603.RAkZD8B0t8UwbJeGpK_NpLUPYeCFfN_-CfhrQxleasZtc130_provenance.