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- source_evidence_literature type ECO_0000212 NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_assertion description "[Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_assertion evidence source_evidence_literature NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_assertion SIO_000772 24727054 NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_assertion wasDerivedFrom befree-20150227 NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_assertion wasGeneratedBy ECO_0000203 NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978179.RArE--24IrovunXvb86bBiLBgXWsD0mm_4CsnyOowmgsQ130_provenance.