Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion type Assertion NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_head.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion description "[We report 2 siblings with the m.14709T > C mutation in the mitochondrial tRNA (Glu) gene/first patient showed hydrops fetalis, a new presentation within the clinical spectrum of this mutation, and the other a known presentation namely mild myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_provenance.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion evidence source_evidence_literature NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_provenance.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion SIO_000772 17161635 NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_provenance.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion wasDerivedFrom lhgdn-20090331 NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_provenance.
- NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_assertion wasGeneratedBy ECO_0000203 NP221384.RAe7dF_0Z4eeUXiZ2P5qVR1CXFI9e6xBipvztCcN90kV4130_provenance.