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- source_evidence_literature type ECO_0000212 NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_assertion description "[Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_assertion evidence source_evidence_literature NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_assertion SIO_000772 19232556 NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_assertion wasDerivedFrom befree-20150227 NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_assertion wasGeneratedBy ECO_0000203 NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP935128.RAjMeZmC-ZYeXofs5RSGo5KYUcSV6lroho2F5XBx5pebo130_provenance.