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Detailed info
| Owner: | tosi-lab | Position: | intron 2 | HAEUID: | 47 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2194delA | Traditional: | splicing defect | ||
| HUGO: | g.3376delA | HUGO: | p.- | ||
| CDS: | c.52-2delA | Effect: | pathogenic | ||
| Reference: | Pappalardo et al., J Allergy Clin Immunol 2000;106:1147-54 | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing. De novo. | ||||
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