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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(R262fs +4 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GNE
(E2G +1 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+2 more
GPathogenic/Likely pathogenic