Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion> ?p ?o ?g. }
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- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion type Assertion NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_head.
- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion description "[The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_provenance.
- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion evidence source_evidence_literature NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_provenance.
- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion SIO_000772 8162055 NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_provenance.
- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion wasDerivedFrom befree-2016 NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_provenance.
- NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_assertion wasGeneratedBy ECO_0000203 NP1334241.RAO-G_8u_G0hvW58NUojitEWMdH62ejo47tgPKDTEO0hs130_provenance.