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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A2
(V331I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
SLC35A2
(W171* +3 more)
Single nucleotide variant
(nonsense +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic