Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion type Assertion NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_head.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion wasGeneratedBy ECO_0000203 NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_provenance.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion wasDerivedFrom befree-2016 NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_provenance.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion SIO_000772 24341803 NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_provenance.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_assertion evidence source_evidence_literature NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_provenance.
- NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_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." NP1137250.RAFa-A-3mUbLA7uVVQm0YfwGQCnEj79yhswJrdNlwu-Ts130_provenance.