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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALOXE3, GUCY2D
Deletion
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(R140* +1 more)
Single nucleotide variant
(nonsense)
Lamellar ichthyosis
GPathogenic