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Detailed info
| Owner: | tosi-lab | Position: | promoter | HAEUID: | 11 |
| Nucleotide change | Protein change | ||||
| Traditional: | -103C>T | Traditional: | - | ||
| HUGO: | g.1080C>T | HUGO: | p.- | ||
| CDS: | c.- | Effect: | unknown | ||
| Reference: | Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing Potential regulatory mutation; mutation found homozygous in two patients of the same family |
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