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- source_evidence_literature type ECO_0000212 NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_assertion description "[We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_assertion evidence source_evidence_literature NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_assertion SIO_000772 19136952 NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_assertion wasDerivedFrom befree-20150227 NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_assertion wasGeneratedBy ECO_0000203 NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334164.RASsUOj-bRdHJS6b9NgmADem02Lxl68nyS0FPW7zx7ZiI130_provenance.