Query author contributions in Reactome

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Details on Person H�berle, Johannes

Class:Id	Person:3299647
_displayName	H�berle, Johannes
_timestamp	2013-04-19 16:00:11
created	[InstanceEdit:3299640] Jassal, B, 2013-04-19
firstname	Johannes
initial	J
surname	H�berle
(author)	[LiteratureReference:199781] Congenital glutamine deficiency with glutamine synthetase mutations [LiteratureReference:451985] Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene [LiteratureReference:3299646] TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations [LiteratureReference:9955071] Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations [LiteratureReference:9955120] Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function [LiteratureReference:9955540] Genetic approach to prenatal diagnosis in urea cycle defects [LiteratureReference:9955605] Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations [LiteratureReference:9955618] Urea cycle disorders-update [LiteratureReference:9955754] Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies [LiteratureReference:9955766] Mutation analysis in patients with N-acetylglutamate synthase deficiency List all 18 refering instances
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No pathways have been reviewed or authored by H�berle, Johannes (3299647)