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- source_evidence_literature type ECO_0000212 NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_assertion wasGeneratedBy ECO_0000203 NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_assertion wasDerivedFrom befree-20140225 NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_assertion SIO_000772 18363172 NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_assertion evidence source_evidence_literature NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_assertion description "[We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital disorder characterized by the eponymous oculo-facial features that are, in female patients, associated either with (type 1 BPES) or without (type 2 BPES) premature ovarian failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP828928.RAphZXwBqS8QjnCysLp4SZo5RKZcV-X7KwGbqb7M-x4nc130_provenance.