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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASS
(I626V)
Single nucleotide variant
(missense variant)
Saccharopinuria
+1 more
GUncertain significance
AASS
(V350M)
Single nucleotide variant
(missense variant)
Hyperlysinemia
+2 more
GUncertain significance
AASS
(Q921R)
Single nucleotide variant
(missense variant)
Hyperlysinemia
+3 more
GUncertain significance
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