Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion> ?p ?o ?g. }
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- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion type Assertion NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_head.
- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_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." NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_provenance.
- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion evidence source_evidence_literature NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_provenance.
- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion SIO_000772 10745044 NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_provenance.
- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion wasDerivedFrom befree-20140225 NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_provenance.
- NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_assertion wasGeneratedBy ECO_0000203 NP364898.RAaIRZu_zrR8j_wAZ2fwlqpTod0xQV610cw3iPftdoWwA130_provenance.