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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
GALT
(E340* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic