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Items: 2

  • Ignored empty double quoted string.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT3
(V605A +7 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
GPathogenic
STAT3
(R382W +4 more)
Single nucleotide variant
(missense variant)
STAT3 gain of function
+3 more
GPathogenic