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Details on Person Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients

Class:IdLiteratureReference:9958711
_displayNameFunctional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients
_timestamp2025-06-24 13:18:03
author[Person:9958707] Kimani, Joseph Kagunda
[Person:9958709] Wei, Tianying
[Person:9958708] Chol, Kim
[Person:1250130] Li, Y
[Person:901103] Yu, P
[Person:8944748] Ye, Sheng
[Person:9958712] Huang, Xinwen
[Person:9958713] Qi, Ming
created[InstanceEdit:9958710] Rothfels, Karen, 2025-06-24
journalClin Chim Acta
pages323-9
pubMedIdentifier25179242
titleFunctional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients
volume438
year2015
(literatureReference)[FailedReaction:9956517] ASS1 variants don't synthesize arginosuccinate [Homo sapiens]
[EntityWithAccessionedSequence:9959146] ASS1 R265C [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients (9958711)