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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 118 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16842C>T | Traditional: | Gln462Stop | ||
| HUGO: | g.18024C>T | HUGO: | p.Gln484Stop | ||
| CDS: | c.1450C>T | Effect: | pathogenic | ||
| Reference: | Siddique Z et al (Hum Hered. 1992;42(4):231-4.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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