Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion> ?p ?o ?g. }
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- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion type Assertion NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_head.
- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion description "[Two patients affected by severe dRTA with early onset SNHL showed the same mutation in the ATP6V1B1 gene and bilateral EVA with a different degree of severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_provenance.
- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion evidence source_evidence_literature NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_provenance.
- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion SIO_000772 19639346 NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_provenance.
- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion wasDerivedFrom befree-20150227 NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_provenance.
- NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_assertion wasGeneratedBy ECO_0000203 NP256889.RAdKKEK4IgcoMvp1MF_5bPpXDwLQLBlQljn88L1j-m-GY130_provenance.