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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUDT10, NUDT11
+22 more
Deletion
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
USP27X, AKAP4
+9 more
Deletion
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(E314K)
Single nucleotide variant
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
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