Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion> ?p ?o ?g. }
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- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion type Assertion NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_head.
- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion wasGeneratedBy ECO_0000203 NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_provenance.
- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion wasDerivedFrom lhgdn-20090331 NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_provenance.
- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion SIO_000772 18451335 NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_provenance.
- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion evidence source_evidence_literature NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_provenance.
- NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_assertion description "[we describe a large atypical Holt-Oram syndrome family with mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease/of TBX5 revealed a novel mutation, c.373G > A, resulting in p.Gly125Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185292.RAeOdbLTMA14L_3vV2vwNNFwUauXNDrktcLh5DTIumUOQ130_provenance.