Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion> ?p ?o ?g. }
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- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion type Assertion NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_head.
- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion description "[Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_provenance.
- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion evidence source_evidence_literature NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_provenance.
- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion SIO_000772 21871435 NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_provenance.
- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion wasDerivedFrom befree-20140225 NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_provenance.
- NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_assertion wasGeneratedBy ECO_0000203 NP887571.RAaPCADzHyxfj8J8poQAWm67IqNYsgQNRnyoV1rHdVrxE130_provenance.