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- source_evidence_literature type ECO_0000212 NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- befree-20150227 importedOn "2015-02-27" NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_assertion wasGeneratedBy ECO_0000203 NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_assertion wasDerivedFrom befree-20150227 NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_assertion SIO_000772 17719949 NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_assertion evidence source_evidence_literature NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.
- NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_assertion description "[A newborn with persistent pulmonary hypertension (PH) unresponsive to conventional therapies was found to be homozygous for a mutation in the gene encoding adenosine triphosphate binding cassette protein, member A3 (ABCA3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP218754.RA9fV5FtXKXp6ffPGzvtA7cyL7IRJLhAL-du-hGTGR60A130_provenance.