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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCK1
(P3S)
Single nucleotide variant
(missense variant)
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
+1 more
GConflicting classifications of pathogenicity
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic