Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion> ?p ?o ?g. }
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- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion type Assertion NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_head.
- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion wasGeneratedBy ECO_0000203 NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.
- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion wasDerivedFrom befree-2016 NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.
- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion SIO_000772 24727570 NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.
- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion evidence source_evidence_literature NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.
- NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_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." NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.