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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
ASS1
(G324S)
Single nucleotide variant
(missense variant)
Citrullinemia
+3 more
GPathogenic/Likely pathogenic
ASS1
(G390R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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