Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_assertion description "[Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consistently led to STGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_assertion evidence source_evidence_curated NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_assertion SIO_000772 9781034 NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_assertion wasDerivedFrom uniprot-2016 NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_assertion wasGeneratedBy ECO_0000218 NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9915.RAcOMxL_UIcsQ7AoND-kd3UFxeRZKKbdUOVdC_kG9oa_E130_provenance.