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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAT1
(W140C)
Single nucleotide variant
(missense variant)
PSAT deficiency
+1 more
GUncertain significance
PSAT1
(R319fs)
Duplication
(frameshift variant +1 more)
PSAT deficiency
+1 more
GUncertain significance