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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A1
(C31W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF1A1, MTO1
Single nucleotide variant
(synonymous variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
+2 more
GBenign/Likely benign