Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion> ?p ?o ?g. }
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- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion type Assertion NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_head.
- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion description "[Both codon 273 and 318 mutations yielding frameshift and premature stop codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3 beta-HSD protein, thereby causing salt-wasting 3 beta-HSD deficiency in the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_provenance.
- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion evidence source_evidence_literature NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_provenance.
- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion SIO_000772 8550766 NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_provenance.
- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion wasDerivedFrom befree-20140225 NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_provenance.
- NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_assertion wasGeneratedBy ECO_0000203 NP651070.RAa-oGJ8tKWos7lYrFjJUO_w8RbwLz2G5jMX8d8DWVOlU130_provenance.