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- source_evidence_literature type ECO_0000212 NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_assertion description "[We report a further patient with a recurrent polyalanine stretch elongation within TBX1 and for the first time link TBX1 cytoplasmatic protein aggregation to congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_assertion evidence source_evidence_literature NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_assertion SIO_000772 19948535 NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_assertion wasDerivedFrom befree-2016 NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_assertion wasGeneratedBy ECO_0000203 NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.
- befree-2016 importedOn "2016-02-19" NP778438.RAh0pDPWfZNdEuhy_0C6C206GRWr-MWcfMX5SoD2yHee8130_provenance.