Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion> ?p ?o ?g. }
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- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion type Assertion NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_head.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_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." NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion evidence source_evidence_curated NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion SIO_000772 8444874 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion wasDerivedFrom ctd_human-2016 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.
- NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_assertion wasGeneratedBy ECO_0000218 NP37049.RAorre0E7zROm37YVXK5UIXqQsd-a-WiLDq7tUH0tKb3I130_provenance.