Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_assertion type Assertion NP319533.RAZNx89_1GNG_RuB-f0YzGgDgFX1A9C_fGbLz_ALz2suU130_head.
- 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.