Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. | 29312905 | 2017 |
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|
0.020 | GeneticVariation | BEFREE | We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. | 23534934 | 2014 |