Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_assertion description "[Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_assertion evidence source_evidence_curated NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_assertion SIO_000772 16565358 NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_assertion wasDerivedFrom ctd_human-20130708 NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_assertion wasGeneratedBy ECO_0000218 NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP26009.RATh81-KUL6p-pQA3vxU-SnGz6sdrOOtlJ6N4qFk2NyKU130_provenance.