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- source_evidence_literature type ECO_0000212 NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_assertion description "[To our knowledge, we report the first molecular confirmation of postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_assertion evidence source_evidence_literature NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_assertion SIO_000772 21931045 NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_assertion wasDerivedFrom befree-2016 NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_assertion wasGeneratedBy ECO_0000203 NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.
- befree-2016 importedOn "2016-02-19" NP924846.RA95n6YZ0InB0mP1deqqBwSq4MbWUXaXHUtrb1liYLUJw130_provenance.