Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion> ?p ?o ?g. }
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- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion type Assertion NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_head.
- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion description "[Exon sequences amplified by polymerase chain reaction showed a C-->T transition at nucleotide 587, resulting in a CGA (Arg)--> TGA (Stop) mutation in exon 5 before the splice site in exon 10, thus preventing synthesis of both HK and LK.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_provenance.
- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion evidence source_evidence_literature NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_provenance.
- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion SIO_000772 7901207 NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_provenance.
- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion wasDerivedFrom befree-20150227 NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_provenance.
- NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_assertion wasGeneratedBy ECO_0000203 NP313234.RAU6N2bLxZieKCK-y0iEKV8vwep2QRsQKAJuq2xdvEguM130_provenance.