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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 100 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16661_16662insA | Traditional: | Frameshift | ||
| HUGO: | g.17843_17844insA | HUGO: | p.Tyr423fs | ||
| CDS: | c.1269_1270insA | Effect: | pathogenic | ||
| Reference: | Frangi D et al (J Clin Invest. 1991 Sep;88(3):755-9.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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