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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALOXE3
(P762L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis
+3 more
GPathogenic
ALOXE3
(R234* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic