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- source_evidence_literature type ECO_0000212 NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_assertion description "[Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip Human Mapping 10K Array.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_assertion evidence source_evidence_literature NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_assertion SIO_000772 15968682 NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_assertion wasDerivedFrom befree-2016 NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_assertion wasGeneratedBy ECO_0000203 NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.
- befree-2016 importedOn "2016-02-19" NP500361.RAQEzHJhcC016JX8_5x-Kgjxxh41oX6bWHmQKd4gI1P60130_provenance.