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Detailed info
| Owner: | admin | Position: | intron 5 | HAEUID: | 88 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8721A>G | Traditional: | Splicing defect | ||
| HUGO: | g.9903A>G | HUGO: | p.- | ||
| CDS: | c.890-2A>G | Effect: | pathogenic | ||
| Reference: | Bowen B et al (Clin Immunol. 2001 Feb;98(2):157-63.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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