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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCSER1, FAM13A
+43 more
Copy number gain
Autosomal dominant Parkinson disease 4
GPathogenic
PPM1K
(T140fs)
Deletion
(frameshift variant)
Maple syrup urine disease, mild variant
GUncertain significance