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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936580, ABHD5
+1 more
Deletion
(intron variant)
Triglyceride storage disease with ichthyosis
GLikely pathogenic
ABHD5
Deletion
Triglyceride storage disease with ichthyosis
GLikely pathogenic