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Detailed info
| Owner: | Rijavec-Golnik | Position: | exon 5 | HAEUID: | 322 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8452_8457delCAACAA | Traditional: | Asn249_Asn250del | ||
| HUGO: | g.9634_9639delCAACAA | HUGO: | p.Asn271_Asn272del | ||
| CDS: | c.813_818delCAACAA | Effect: | pathogenic | ||
| Reference: | Grivčeva-Panovska et al. (Ann Med. 2018;50(3):269-276) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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