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Details on Person Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Class:Id	LiteratureReference:9914747
_displayName	Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
_timestamp	2024-06-27 13:51:33
author	[Person:9914741] D'Annibale, Olivia M [Person:9914729] Koppes, Erik A [Person:9914752] Alodaib, Ahmad N [Person:9914750] Kochersperger, Catherine [Person:9914742] Karunanidhi, Anuradha [Person:5695978] Mohsen, Al-Walid [Person:70737] Vockley, J
created	[InstanceEdit:9914749] Rothfels, Karen, 2024-06-27
journal	Mol Genet Metab
pages	29-36
pubMedIdentifier	34535384
title	Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
volume	134
year	2021
(literatureReference)	[EntityWithAccessionedSequence:9914795] T239I IVD [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9914802] M332T IVD [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9914810] R340Q IVD [mitochondrial matrix] [Homo sapiens] [Pathway:9914355] Isovaleric acidemia [Homo sapiens] [FailedReaction:9914837] IVD mutants don't synthesize beta-methylcrotonyl-CoA [Homo sapiens]
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No pathways have been reviewed or authored by Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis (9914747)