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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDC
(R347Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DDC
Single nucleotide variant
(splice acceptor variant)
Deficiency of aromatic-L-amino-acid decarboxylase
GLikely pathogenic