Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion> ?p ?o ?g. }
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- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion type Assertion NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_head.
- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion wasGeneratedBy ECO_0000203 NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_provenance.
- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion wasDerivedFrom befree-2016 NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_provenance.
- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion SIO_000772 15258860 NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_provenance.
- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion evidence source_evidence_literature NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_provenance.
- NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_assertion description "[One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP452457.RAHSguA0UTdQcfCX6wvLUsU7kJh9wDhm4-VkdNHPUERSk130_provenance.