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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRL, PCK2
(R8* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
NRL, PCK2
Duplication
(intron variant)
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
+1 more
GBenign