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Diagnostic testing for Isovaleric acidaemia (Version: )

Relevant disorders: R450
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
IVD
BIALLELIC, autosomal or pseudoautosomalN/AN/A