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Detailed info
| Owner: | tosi-lab | Position: | intron 1 | HAEUID: | 14 |
| Nucleotide change | Protein change | ||||
| Traditional: | 564G>A | Traditional: | splicing defect | ||
| HUGO: | g.1746G>A | HUGO: | p.- | ||
| CDS: | c.-22-1G>A | Effect: | pathogenic | ||
| 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 Mutation found in two affected members of the same family |
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