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- source_evidence_literature type ECO_0000212 NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_assertion description "[We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_assertion evidence source_evidence_literature NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_assertion SIO_000772 21211617 NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_assertion wasDerivedFrom befree-20150227 NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_assertion wasGeneratedBy ECO_0000203 NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP587212.RA9G4VOKcsJUWF52C-hSXcFnEFtia61Josg3nwkSZFLi8130_provenance.