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Detailed info
| Owner: | tosi-lab | Position: | exon 5 | HAEUID: | 26 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8390delC | Traditional: | frameshift | ||
| HUGO: | g.9572delC | HUGO: | p.Val250fs | ||
| CDS: | c.751delC | Effect: | pathogenic | ||
| Reference: | Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing | ||||
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