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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM8
(P430S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRDM8
(R448Q)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance