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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(R807C)
Single nucleotide variant
(missense variant)
neonatal seizures
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Microsatellite
(inframe_insertion)
Autosomal recessive progressive external ophthalmoplegia
+4 more
GBenign/Likely benign