Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion> ?p ?o ?g. }
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- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion type Assertion NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_head.
- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion description "[The hereditary hemorrhagic telangiectasia family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_provenance.
- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion evidence source_evidence_literature NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_provenance.
- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion SIO_000772 18543223 NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_provenance.
- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion wasDerivedFrom lhgdn-20090331 NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_provenance.
- NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_assertion wasGeneratedBy ECO_0000203 NP215818.RAq-67oG3t0pRECenYQTASQe0qlK3Jij_V5kATE_PRD7s130_provenance.