Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion> ?p ?o ?g. }
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- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion type Assertion NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_head.
- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion description "[Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_provenance.
- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion evidence source_evidence_literature NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_provenance.
- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion SIO_000772 7643352 NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_provenance.
- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion wasDerivedFrom befree-20150227 NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_provenance.
- NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_assertion wasGeneratedBy ECO_0000203 NP353046.RAwvyEyfemyeHFJalDYpkJhwtUluQE1a-ra3FBguUHc_8130_provenance.