Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002615.7:c.1118_1119del | 4 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613982.G.2 | Saudi Arabia | Recurrent fractures; Blue sclerae | Yes | Yes | Two patients from family 'OI_F6' in the publication |