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- source_evidence_literature type ECO_0000212 NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_assertion description "[A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_assertion evidence source_evidence_literature NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_assertion SIO_000772 19076794 NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_assertion wasDerivedFrom befree-2016 NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_assertion wasGeneratedBy ECO_0000203 NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.
- befree-2016 importedOn "2016-02-19" NP708917.RApF6IRb0FKon7Von2GDKc-OWeYkuMqr9YjierGtzgkM0130_provenance.