Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion type Assertion NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_head.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion description "[Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_provenance.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion evidence source_evidence_literature NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_provenance.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion SIO_000772 17273972 NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_provenance.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion wasDerivedFrom befree-2016 NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_provenance.
- NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_assertion wasGeneratedBy ECO_0000203 NP592066.RAWMe_BznF68bOSxUcEHnnDr_Xwp9WmFYG2kGCw3oLlL8130_provenance.