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Details on Person Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Class:IdLiteratureReference:9959294
_displayNameUnstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
_timestamp2025-06-27 20:52:51
author[Person:9652834] Hu, Liyan
[Person:9947124] Pandey, Amit V
[Person:9959274] Balmer, Cécile
[Person:9916615] Eggimann, Sandra
[Person:9955601] Rüfenacht, Véronique
[Person:9916554] Nuoffer, Jean-Marc
[Person:3299647] Häberle, Johannes
created[InstanceEdit:9959293] Rothfels, Karen, 2025-06-27
journalJ Inherit Metab Dis
pages815-27
pubMedIdentifier25778938
titleUnstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
volume38
year2015
(literatureReference)[EntityWithAccessionedSequence:9959321] ASL R12Q [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959337] ASL D31N [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959341] ASL R385C [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959346] ASL Q286R [cytosol] [Homo sapiens]
[FailedReaction:9956524] ASL variants don't synthesize fumarate and arginine [Homo sapiens]
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No pathways have been reviewed or authored by Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria (9959294)