Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. | 22237435 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. | 15459303 | 2004 |
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A | 0.700 | CausalMutation | CLINVAR | Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. | 10875918 | 2000 |