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- source_evidence_literature type ECO_0000212 NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_assertion description "[The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_assertion evidence source_evidence_literature NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_assertion SIO_000772 8595413 NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_assertion wasDerivedFrom befree-20150227 NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_assertion wasGeneratedBy ECO_0000203 NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP649185.RAR6h7JrnEvRa3ufkaQ0VeLGPxems2dDslno-TTfin4cE130_provenance.