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- source_evidence_literature type ECO_0000212 NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_assertion description "[Three sequence variants were identified: one patient had the most recurrent mutation already observed in ARX gene, the c.428_451dup(24 bp), two patients presented the c.1347C>T (p.G449G) in exon 4, and one patient had the intronic variant c.1074-3T>C. Although two of these alterations were considered polymorphisms, the known pathogenic variant c.428_451dup(24 bp) was found at a high rate (4.8%) among X-linked mental retardation (XLMR) families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_assertion evidence source_evidence_literature NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_assertion SIO_000772 16845484 NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_assertion wasDerivedFrom befree-2016 NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_assertion wasGeneratedBy ECO_0000203 NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.
- befree-2016 importedOn "2016-02-19" NP560005.RA6SeCfCrelKtq8s8r3cz5D8YyaseUTVqTbI5g_sd2O44130_provenance.