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- source_evidence_literature type ECO_0000212 NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_assertion description "[We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_assertion evidence source_evidence_literature NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_assertion SIO_000772 11462173 NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_assertion wasDerivedFrom befree-2016 NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_assertion wasGeneratedBy ECO_0000203 NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.
- befree-2016 importedOn "2016-02-19" NP324422.RAtOx_Y0JirchvxnPJNPtYBGkamXmP86OEgDT7PSMPs6M130_provenance.