Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion> ?p ?o ?g. }
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- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion type Assertion NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_head.
- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion description "[Additionally, the direct BLM gene sequencing identified a novel homozygous frameshift mutation c.3617-3619delAA (p.K1207fsX9) in BS patients and a heterozygous BLM mutation in the family members with higher SCE frequency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_provenance.
- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion evidence source_evidence_literature NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_provenance.
- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion SIO_000772 25129257 NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_provenance.
- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion wasDerivedFrom befree-2016 NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_provenance.
- NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_assertion wasGeneratedBy ECO_0000203 NP1211270.RAk9PZfDOKNzoVKcsxFIu2IH7_QQ90chUtGBA2ACVHvfQ130_provenance.