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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B4
(Y132H +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GLikely pathogenic
FBN1
(C623S)
Single nucleotide variant
(missense variant)
Perrault syndrome 1
GLikely pathogenic
FBN1
Deletion
Perrault syndrome 1
GPathogenic
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