Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002615.7:c.-9+2dup | 4 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613982.G.1 | Saudi Arabia | Recurrent fractures; Blue sclerae | Yes | Yes | Two patients from family 'OI_F5' in the publication |