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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAMM41
Single nucleotide variant
(splice donor variant)
Combined oxidative phosphorylation deficiency 56
+5 more
GPathogenic
TAMM41
(S45P +1 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency 56
+5 more
GPathogenic