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Detailed info
| Owner: | admin | Position: | intron 6 | HAEUID: | 93 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8863G>T | Traditional: | Splicing defect | ||
| HUGO: | g.10045G>T | HUGO: | p.- | ||
| CDS: | c.1029+1G>T | Effect: | pathogenic | ||
| Reference: | Siddique Z et al (Hum Genet. 1991 Dec;88(2):231-2.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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