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- source_evidence_literature type ECO_0000212 NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_assertion description "[These advances are reviewed and used as the basis for a revised theory for pathogenesis: A clone of proliferating chondrocytes without functional EXT1 (or EXT2) expression fails to produce heparan sulfate; lack of heparan sulfate at the cell surface disrupts fibroblast growth factor signaling and Indian hedgehog diffusion, leading to focal overproliferation and adjacent bone collar deficiency, respectively; together these effects are proposed to contribute to osteochondroma pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_assertion evidence source_evidence_literature NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_assertion SIO_000772 14575257 NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_assertion wasDerivedFrom befree-20140225 NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_assertion wasGeneratedBy ECO_0000203 NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP475476.RA8FyGqeRV8_5kqXz_Erqxo-R2nH6yxHI-Iq4gkjWOJNA130_provenance.