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- source_evidence_literature type ECO_0000212 NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_assertion wasGeneratedBy ECO_0000203 NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_assertion wasDerivedFrom befree-2016 NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_assertion SIO_000772 23103230 NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_assertion evidence source_evidence_literature NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.
- NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_assertion description "[In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1024183.RAD0HB2sl6G34hxA0BEpoTW5EHtVwHVyXpfRZZ7lDJjyc130_provenance.