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Detailed info
| Owner: | Wuerzburg | Position: | exon 2 | HAEUID: | 208 |
| Nucleotide change | Protein change | ||||
| Traditional: | 587A>G | Traditional: | Met-22Val | ||
| HUGO: | g. | HUGO: | p.Met1Val | ||
| CDS: | c.1A>G | Effect: | pathogenic | ||
| Reference: | Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Found in 9 members of 4 families | ||||
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