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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(S321L)
Single nucleotide variant
(missense variant)
Hypoammonemia
GLikely pathogenic
CPT2
(S567N +1 more)
Single nucleotide variant
(missense variant)
Hypoammonemia
+5 more
GUncertain significance
CPT2
(D376G)
Single nucleotide variant
(missense variant)
Hypoammonemia
GUncertain significance
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