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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBP1
(E281K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FBP1
(G260R)
Single nucleotide variant
(missense variant)
Fructose-biphosphatase deficiency
+1 more
GPathogenic/Likely pathogenic