Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion type Assertion NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_head.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion wasGeneratedBy ECO_0000203 NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_provenance.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion wasDerivedFrom befree-2016 NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_provenance.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion SIO_000772 9054938 NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_provenance.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion evidence source_evidence_literature NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_provenance.
- NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_assertion description "[Large deletions or translocations resulting in haploinsufficiency of the GLI3 gene have been associated with Greig cephalopolysyndactyly syndrome (GCPS; M175700) although no mutations have been identified in GCPS patients with normal karyotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1368525.RACcMeROJS9BiglvdqRNEkaMUjvFtWtyZfsuj8lrN2JwM130_provenance.