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- source_evidence_literature type ECO_0000212 NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_assertion description "[Hay-Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate, from which the disorder's other name, AEC syndrome, is derived.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_assertion evidence source_evidence_literature NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_assertion SIO_000772 19681128 NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_assertion wasDerivedFrom befree-2016 NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_assertion wasGeneratedBy ECO_0000203 NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.
- befree-2016 importedOn "2016-02-19" NP757663.RAWQby0KKk4wf_m522QnKWHZpoR8WmCsH4TSwWDRAwtAo130_provenance.