Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion> ?p ?o ?g. }
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- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion type Assertion NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_head.
- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion wasGeneratedBy ECO_0000203 NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_provenance.
- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion wasDerivedFrom befree-20150227 NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_provenance.
- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion SIO_000772 24341803 NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_provenance.
- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion evidence source_evidence_literature NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_provenance.
- NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_assertion description "[Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and α-KGDH deficiency with a unique amino acid profile that partly ressembled E3 subunit (dihydrolipoamide dehydrogenase / DLD) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP354703.RArQW34e6USoLsZXHbdY_1w-EZFXyNNR9ZrlMspAxHAi8130_provenance.