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Detailed info
| Owner: | Rijavec-Golnik | Position: | exon 8 | HAEUID: | 301 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16743G>A | Traditional: | Glu429Lys | ||
| HUGO: | g.17925G>A | HUGO: | p.Glu451Lys | ||
| CDS: | c.1351G>A | Effect: | pathogenic | ||
| Reference: | Rijavec M. et al. PLoS ONE 2013 8(2): e56712 | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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