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- source_evidence_literature type ECO_0000212 NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_assertion description "[This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_assertion evidence source_evidence_literature NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_assertion SIO_000772 23356391 NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_assertion wasDerivedFrom befree-20150227 NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_assertion wasGeneratedBy ECO_0000203 NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978354.RAMr6Hmv_pWhfuCv21J8nHeMBjw57cHwvyzy_C6grNGvY130_provenance.