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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-CYB
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+6 more
Gnot provided
MT-ATP6
Inversion
NARP syndrome
GPathogenic
MT-ATP6
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ATP6
Duplication
NARP syndrome
GPathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND4L, MT-ND5
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
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