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- source_evidence_literature type ECO_0000212 NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- befree-20150227 importedOn "2015-02-27" NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_assertion wasGeneratedBy ECO_0000203 NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_assertion wasDerivedFrom befree-20150227 NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_assertion SIO_000772 24140113 NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_assertion evidence source_evidence_literature NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.
- NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_assertion description "[All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944912.RAZi1xPgIwaJzuGl-Yx1dMvfK-PTuT8YKrQZK9Fmaz4io130_provenance.