Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion> ?p ?o ?g. }
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- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion type Assertion NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_head.
- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion description "[Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_provenance.
- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion evidence source_evidence_literature NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_provenance.
- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion SIO_000772 10612833 NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_provenance.
- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion wasDerivedFrom befree-2016 NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_provenance.
- NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_assertion wasGeneratedBy ECO_0000203 NP271070.RAmPtj0L39EfgEmxb_qu4kx-r3Nw6B9W1B_t40R6gQhc4130_provenance.