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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
Infantile bilateral striatal necrosis
+2 more
GBenign
IL4I1, NUP62
(S283T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
Infantile bilateral striatal necrosis
+2 more
GBenign
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