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- source_evidence_literature type ECO_0000212 NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_assertion description "[Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_assertion evidence source_evidence_literature NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_assertion SIO_000772 22152678 NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_assertion wasDerivedFrom befree-20150227 NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_assertion wasGeneratedBy ECO_0000203 NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.
- befree-20150227 importedOn "2015-02-27" NP526824.RAdSI-82_y3ynDSLQgqUA2JyeyozvOD4BLIqoXX0xEYis130_provenance.