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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPL3
(P317R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MRPL3
(R17fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 9
GPathogenic