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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCKDK
(A283T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TGFB1I1, TRIM72
+38 more
Deletion
Branched-chain keto acid dehydrogenase kinase deficiency
GUncertain significance