Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion> ?p ?o ?g. }
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- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion type Assertion NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_head.
- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion description "[The 5 new diagnoses implicated 2 genes associated with canonical mitochondrial disorders (NDUFV1, POLG2), and 3 genes known to underlie other neurologic disorders (DPYD, KARS, WFS1), underscoring the phenotypic and biochemical overlap with other inborn errors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_provenance.
- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion evidence source_evidence_literature NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_provenance.
- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion SIO_000772 23596069 NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_provenance.
- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion wasDerivedFrom befree-2016 NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_provenance.
- NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_assertion wasGeneratedBy ECO_0000203 NP1070522.RAMIWM9x3vO2EJ7OOcfatF7IEN0pOUpTkHf0oX5v62avw130_provenance.