A Compendium of manually annotated genetic variants for Alkaptonuria-AKUHub
S Akila, Tannavee Kumar, Shofia Saghya Infant, S Srividya, N Suriyamoorthy, R Vijhayalakshmi, Vinod Scaria, Ratnesh Bhai Mehta
The paper compiles and annotates 1686 exonic variants in the HGD gene, creating a comprehensive database (AKUHub) for alkaptonuria with uniform pathogenicity classification.
medRxiv · Feb 21, 2023 · PreprintGenetic & Genomic Medicine