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Detailed info
| Owner: | sevilla_lab | Position: | exon 3 | HAEUID: | 200 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2393delT | Traditional: | Frameshift | ||
| HUGO: | g.3575delT | HUGO: | p.Asn83fs | ||
| CDS: | c.249delT | Effect: | pathogenic | ||
| Reference: | Unpublished sequence variation | ||||
| Family history: | positive | No. of cases: | 1 | ||
| Notes: | ND | ||||
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