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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 110 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16753T>A | Traditional: | Val432Glu | ||
| HUGO: | g.17935T>A | HUGO: | p.Val455Glu | ||
| CDS: | c.1361T>A | Effect: | pathogenic | ||
| Reference: | Davis AE 3rd et al (Nat Genet. 1992 Aug;1(5):354-8.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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