A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia

Key Points

• To compile and analyze the pathogenic variants of ABCG5 and ABCG8 and their clinical features in sitosterolemia.
• Conducted a comprehensive cataloging of clinical features and variants
• Analyzed data related to ABCG5 and ABCG8
• Utilized extensive genetic databases for reference
• Established the largest catalog of ABCG5 and ABCG8 variants
• Clarified the pathogenicity of multiple variants
• Provided a valuable resource for genetic diagnostics