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Details on Person argininosuccinic aciduria

Class:IdDisease:9956465
_displayNameargininosuccinic aciduria
_timestamp2025-06-12 23:28:25
created[InstanceEdit:9956459] Rothfels, Karen, 2025-06-12
definitionOMIM mapping confirmed by DO. [SN].
identifier14755
nameargininosuccinic aciduria
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymarginosuccinase deficiency
Argininosuccinate lyase deficiency
deficiency of argininosuccinate lyase
argininosuccinic acidemia
(disease)[Complex:9956461] ASL variant tetramers [cytosol] [Homo sapiens]
[CandidateSet:9956471] ASL variants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959319] ASL R95C [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959321] ASL R12Q [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959323] ASL R182Q [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959326] ASL Q354* [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959327] ASL V178M [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959329] ASL R297Q [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959333] ASL D237N [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959336] ASL R186Q [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by argininosuccinic aciduria (9956465)