Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion> ?p ?o ?g. }
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- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion type Assertion NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_head.
- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_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." NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_provenance.
- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion evidence source_evidence_literature NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_provenance.
- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion SIO_000772 10745044 NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_provenance.
- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion wasDerivedFrom befree-2016 NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_provenance.
- NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_assertion wasGeneratedBy ECO_0000203 NP279805.RAXYcTWkq3n9daafvuZZE_0660OAIH61KGqwPzSVK7OQU130_provenance.