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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(S1498T +9 more)
Single nucleotide variant
(missense variant)
TSC2-related disorder
+1 more
GLikely pathogenic
TSC2
(Q1392* +9 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic