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Detailed info
| Owner: | trascasa-lab | Position: | exon 5 | HAEUID: | 179 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8521C>G | Traditional: | Asp207_Ser274del | ||
| HUGO: | g.9703C>G | HUGO: | p.Asp229_Ser296del | ||
| CDS: | c.882C>G | Effect: | pathogenic | ||
| Reference: | Roche O et al. (Human Mutation 2005 26(2), 135-144) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Exon 5 skipping | ||||
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