Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000048.4:c.556C>T | 16 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
207900.G.1.1 | Saudi Arabia | Elevated plasma citrulline | Unknown | Group of 15 patients |