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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIAS
(E284K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIAS
(T326fs +2 more)
Deletion
(frameshift variant +1 more)
Lipoic acid synthetase deficiency
GUncertain significance