RS137886900 TK2
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What This Variant Does
"Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form),...
Associated Conditions
Mitochondrial disease
Mitochondrial DNA depletion syndrome
myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 3
Mitochondrial disease
Mitochondrial disease
Mitochondrial DNA depletion syndrome
myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 3
Mitochondrial disease
Other Variants in TK2