ASS1

Citrullinemia type 1 — functional variant classification

1 article(s) in the watch · Constitutional genetics

Curated publications

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I

Citrullinemia type 1 — functional variant classification

Automatic aggregation page — a clinical introduction may be added.