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- source_evidence_literature type ECO_0000212 NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_assertion description "[Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_assertion evidence source_evidence_literature NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_assertion SIO_000772 11734544 NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_assertion wasDerivedFrom befree-2016 NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_assertion wasGeneratedBy ECO_0000203 NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.
- befree-2016 importedOn "2016-02-19" NP338190.RA0eZfE7CURVk0lrtkqkON5okNcwtc0_U8RbH7XicOk5U130_provenance.