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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TH
(R233H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TH
(Q201* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive DOPA responsive dystonia
GPathogenic