Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion> ?p ?o ?g. }
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- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion type Assertion NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_head.
- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion description "[Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_provenance.
- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion evidence source_evidence_curated NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_provenance.
- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion SIO_000772 10441342 NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_provenance.
- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion wasDerivedFrom ctd_human-20130708 NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_provenance.
- NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_assertion wasGeneratedBy ECO_0000218 NP16912.RAEMVQevYgz6W-2KwYGiycqm_dR9kB3fQUN6LmgDpUa4U130_provenance.