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- source_evidence_literature type ECO_0000212 NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- befree-2016 importedOn "2016-02-19" NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
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- NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_assertion wasDerivedFrom befree-2016 NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_assertion SIO_000772 24727570 NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_assertion evidence source_evidence_literature NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
- NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.