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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SSR4
(Q81* +2 more)
Single nucleotide variant
(nonsense +1 more)
SSR4-congenital disorder of glycosylation
GPathogenic
SSR4
Deletion
SSR4-congenital disorder of glycosylation
GPathogenic