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- source_evidence_literature type ECO_0000212 NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_assertion description "[We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_assertion evidence source_evidence_literature NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_assertion SIO_000772 18523453 NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_assertion wasDerivedFrom befree-2016 NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_assertion wasGeneratedBy ECO_0000203 NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.
- befree-2016 importedOn "2016-02-19" NP674909.RAK-4-pf1KYwT3zR2GeL9QoVvqP6j8p9ac-5oOwzp5-Rc130_provenance.