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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 105 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16789G>T | Traditional: | Arg444Leu | ||
| HUGO: | g.17971G>T | HUGO: | p.Arg466Leu | ||
| CDS: | c.1397G>T | Effect: | pathogenic | ||
| Reference: | Frangi D et al (FEBS Lett. 1992 Apr 13;301(1):34-6.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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