Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion> ?p ?o ?g. }
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- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion type Assertion NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_head.
- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion description "[A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_provenance.
- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion evidence source_evidence_curated NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_provenance.
- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion SIO_000772 8444874 NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_provenance.
- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion wasDerivedFrom ctd_human-20150221 NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_provenance.
- NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_assertion wasGeneratedBy ECO_0000218 NP25651.RAAkgGzvzpNcOksmtwK-JzhpTdPDwbaBs5GpWJ7vu3tCY130_provenance.