Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion type Assertion NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_head.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion wasGeneratedBy ECO_0000203 NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion wasDerivedFrom befree-20150227 NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion SIO_000772 24727570 NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion evidence source_evidence_literature NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.
- NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_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." NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.