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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(R296Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
+1 more
GUncertain significance
AARS1
(T96I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance