Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Likely inborn error of metabolism - targeted testing not possible v0.4 NAT8L Ellen McDonagh gene: NAT8L was added
gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 19807691
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063