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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG13
(Q40H)
Single nucleotide variant
(missense variant +3 more)
Developmental and epileptic encephalopathy, 36
GPathogenic
ALG13
(N107S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GPathogenic