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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK7
(R1384* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 23
GPathogenic
DOCK7
(G152fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 23
GPathogenic