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- source_evidence_literature type ECO_0000212 NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_assertion description "[Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_assertion evidence source_evidence_literature NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_assertion SIO_000772 23355677 NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_assertion wasDerivedFrom befree-2016 NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_assertion wasGeneratedBy ECO_0000203 NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.
- befree-2016 importedOn "2016-02-19" NP1047711.RAzhJeVl60NOAjTB5TvuRzr8uASppJTIM25QL_hqvo4_M130_provenance.