Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion> ?p ?o ?g. }
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- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion type Assertion NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_head.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_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." NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion evidence source_evidence_literature NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion SIO_000772 17204049 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion wasDerivedFrom befree-20140225 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion wasGeneratedBy ECO_0000203 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.