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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPF3B
(R451fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 14
GPathogenic
UPF3B
Deletion
(nonsense)
Syndromic X-linked intellectual disability 14
GPathogenic