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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDC
(P210L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
DDC, DDC-AS1
Deletion
(splice acceptor variant +1 more)
Deficiency of aromatic-L-amino-acid decarboxylase
GPathogenic/Likely pathogenic