Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion> ?p ?o ?g. }
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- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion type Assertion NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_head.
- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion wasGeneratedBy ECO_0000203 NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_provenance.
- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion wasDerivedFrom befree-20150227 NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_provenance.
- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion SIO_000772 9633819 NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_provenance.
- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion evidence source_evidence_literature NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_provenance.
- NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_assertion description "[A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP766547.RAiojBlvBNQEKF9uErnXw4ZgkrPqk6YwW61PF5wKOQshE130_provenance.