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Detailed info
| Owner: | Wuerzburg | Position: | exon 7 | HAEUID: | 267 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14213_14216delGACC | Traditional: | Frameshift | ||
| HUGO: | g. | HUGO: | p. | ||
| CDS: | c.1212_1215delGACC | Effect: | pathogenic | ||
| Reference: | Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | 2 members of 1 family | ||||
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