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- source_evidence_literature type ECO_0000212 NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion description "[Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion evidence source_evidence_literature NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion SIO_000772 10745044 NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion wasDerivedFrom befree-20150227 NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion wasGeneratedBy ECO_0000203 NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_provenance.