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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPL39
Single nucleotide variant
(intron variant)
Mitochondrial disease
GPathogenic
MRPL39
(S176fs)
Deletion
(frameshift variant)
Leigh syndrome
GLikely pathogenic
MRPL39
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency 59
+1 more
GPathogenic/Likely pathogenic
MRPL39
(G299V)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
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