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Detailed info
| Owner: | admin | Position: | exon 6 | HAEUID: | 91 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8770T>C | Traditional: | Phe291Leu | ||
| HUGO: | g.9952T>C | HUGO: | p.Phe313Leu | ||
| CDS: | c.937T>C | Effect: | pathogenic | ||
| Reference: | Siddique Z et al (Hum Hered. 1995 Mar-Apr;45(2):98-102.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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