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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-CO3
Single nucleotide variant
Exercise intolerance
+12 more
GUncertain significance
TWNK
(R374Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 more
GPathogenic/Likely pathogenic