Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion> ?p ?o ?g. }
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- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion type Assertion NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_head.
- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_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." NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance.
- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion evidence source_evidence_literature NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance.
- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion SIO_000772 17204049 NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance.
- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion wasDerivedFrom befree-2016 NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance.
- NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion wasGeneratedBy ECO_0000203 NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance.