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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 117 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16786G>A | Traditional: | Ala443Val | ||
| HUGO: | g.17968G>A | HUGO: | p.Ala465Val | ||
| CDS: | c.1394G>A | Effect: | pathogenic | ||
| Reference: | Zahedi R et al (J Clin Invest. 1995 Mar;95(3):1299-305.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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