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Detailed info
| Owner: | Rijavec-Golnik | Position: | exon 3 | HAEUID: | 302 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2593C>T | Traditional: | Ser128Phe | ||
| HUGO: | g.3775C>T | HUGO: | p.Ser150Phe | ||
| CDS: | c.449C>T | 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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