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Detailed info
| Owner: | trascasa-lab | Position: | intron 3 | HAEUID: | 176 |
| Nucleotide change | Protein change | ||||
| Traditional: | 4349delA | Traditional: | Gly162_pro206del | ||
| HUGO: | g.5531delA | HUGO: | p.Gly184_Pro228del | ||
| CDS: | c.551-2delA | Effect: | pathogenic | ||
| Reference: | Roche et al. (Human Mutation 2005 26(2), 135-144) | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Exon 4 skipping | ||||
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