Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion type Assertion NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_head.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion evidence source_evidence_literature NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion SIO_000772 22560297 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion wasDerivedFrom befree-2016 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion wasGeneratedBy ECO_0000203 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.