Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion type Assertion NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_head.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion description "[The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_provenance.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion evidence source_evidence_literature NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_provenance.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion SIO_000772 17204049 NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_provenance.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion wasDerivedFrom befree-20150227 NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_provenance.
- NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_assertion wasGeneratedBy ECO_0000203 NP708818.RAX9C641AHbKEtiO8_U71aupclkoZe-eL11l52ji9vOU0130_provenance.