Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP851592.RA5X94jpaGU9nQQhAHk2QLv2cnm7T1Lm8ZEnhT72EHnQA#assertion> ?p ?o ?g. }
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- assertion description "[Exome sequencing identified a c.222C>G mutation (missense p.74Ile>Met) in PRKACG, a gene encoding the ?-catalytic subunit of the cyclic adenosine monophosphate-dependent protein kinase, the mutated allele cosegregating with the macrothrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25061177 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.