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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
(G448R +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GPathogenic/Likely pathogenic
PEPD
(G278D +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GPathogenic/Likely pathogenic