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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
(T300S +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+9 more
GUncertain significance
Complex
Growth delay
+14 more
GPathogenic