Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion> ?p ?o ?g. }
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- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion type Assertion NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_head.
- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_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." NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_provenance.
- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion evidence source_evidence_literature NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_provenance.
- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion SIO_000772 10745044 NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_provenance.
- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion wasDerivedFrom befree-2016 NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_provenance.
- NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_assertion wasGeneratedBy ECO_0000203 NP279803.RAUBkrDtA4_vbylx0Ats6Iv9rxqQc4hbAzOnkyucGEPjQ130_provenance.