Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion> ?p ?o ?g. }
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- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion type Assertion NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_head.
- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion description "[By WES, compound heterozygous BLM stop founder mutations were detected causing Bloom syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_provenance.
- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion evidence source_evidence_literature NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_provenance.
- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion SIO_000772 23552953 NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_provenance.
- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion wasDerivedFrom befree-20150227 NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_provenance.
- NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_assertion wasGeneratedBy ECO_0000203 NP268055.RAK25hrskhzI2zMv6_BkiiNlCxZcWjJ5ibAz8xstRXaaY130_provenance.