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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRFN4, PC
(E628*)
Single nucleotide variant
(nonsense +1 more)
Pyruvate carboxylase deficiency
GPathogenic
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic