Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. | 25359994 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. | 25038750 | 2014 |