Query author contributions in Reactome
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Details on Person ASL Q354* [cytosol]
| Class:Id | EntityWithAccessionedSequence:9959326 |
|---|---|
| _displayName | ASL Q354* [cytosol] |
| _timestamp | 2025-06-27 20:53:52 |
| compartment | [Compartment:70101] cytosol |
| created | [InstanceEdit:9959358] Rothfels, Karen, 2025-06-27 |
| crossReference | [DatabaseIdentifier:9959328] ClinGen:PA285297 [DatabaseIdentifier:9959342] ClinGen:PA285296 |
| disease | [Disease:9956465] argininosuccinic aciduria |
| endCoordinate | 464 |
| hasModifiedResidue | [NonsenseMutation:9959300] Nonsense mutation at L-glutamine 354 |
| literatureReference | [LiteratureReference:9959229] A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria |
| name | ASL Q354* argininosuccinate lyase arginosuccinase |
| referenceEntity | [ReferenceGeneProduct:50291] UniProt:P04424 ASL [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9959371] R-HSA-9959326.1 |
| startCoordinate | 1 |
| (hasCandidate) | [CandidateSet:9956471] ASL variants [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by ASL Q354* [cytosol] (9959326)
