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- source_evidence_literature type ECO_0000212 NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_assertion description "[We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_assertion evidence source_evidence_literature NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_assertion SIO_000772 16190990 NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_assertion wasDerivedFrom befree-2016 NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_assertion wasGeneratedBy ECO_0000203 NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.
- befree-2016 importedOn "2016-02-19" NP515499.RAPhvurMg2CYMD2uTtdTq-x0EBg5e5OeHkvxiAeCZMr9o130_provenance.