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- source_evidence_literature type ECO_0000212 NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_assertion evidence source_evidence_literature NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_assertion SIO_000772 17641262 NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_assertion wasDerivedFrom befree-2016 NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_assertion wasGeneratedBy ECO_0000203 NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.
- befree-2016 importedOn "2016-02-19" NP621046.RAlb2mHfyG152-j7diJx1XgVweyVfEEkdLibUOGTij9E8130_provenance.