Query author contributions in Reactome

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Details on Person Garcia-Cazorla, Angels

Class:Id	Person:2466345
_displayName	Garcia-Cazorla, Angels
_timestamp	2012-09-06 21:13:44
created	[InstanceEdit:2466344] May, B, 2012-09-06
firstname	Angels
initial	A
surname	Garcia-Cazorla
(author)	[LiteratureReference:2466343] A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins [LiteratureReference:5603182] 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes [LiteratureReference:5693166] Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients [LiteratureReference:6797535] Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes [LiteratureReference:8877974] Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
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No pathways have been reviewed or authored by Garcia-Cazorla, Angels (2466345)