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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 113 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16752_16785del34bp | Traditional: | Frameshift | ||
| HUGO: | g.17934_17977del | HUGO: | p.Gly453fs | ||
| CDS: | c.1360_1393del | Effect: | pathogenic | ||
| Reference: | Bissler JJ et al (Hum Genet. 1994 Mar;93(3):265-9.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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