Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion> ?p ?o ?g. }
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- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion type Assertion NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_head.
- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion description "[The affected members of the Surinamese family have a severe early-onset form of autosomal recessive retinitis pigmentosa, which is caused by compound heterozygous mutations in the TULP1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_provenance.
- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion evidence source_evidence_literature NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_provenance.
- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion SIO_000772 17620573 NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_provenance.
- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion wasDerivedFrom lhgdn-20090331 NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_provenance.
- NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_assertion wasGeneratedBy ECO_0000203 NP227039.RAcXnTG0yS_q5HHphEuot3Xx-zt6ICF_dYV8k4IjY9B4U130_provenance.