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- source_evidence_literature type ECO_0000212 NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion description "[Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe 'overlap' phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion evidence source_evidence_literature NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion SIO_000772 21964829 NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion wasDerivedFrom befree-20150227 NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion wasGeneratedBy ECO_0000203 NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance.