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A study identifies a novel compound heterozygous mutation in the ABCG5 gene linked to early-onset sitosterolemia. This research enhances understanding of the genetic basis of the disease and may inform future therapeutic strategies.
Read full storyA new catalog details pathogenic variants in the ABCG5 and ABCG8 genes associated with sitosterolemia, providing insights into the clinical features of this rare condition. This research enhances understanding of genetic factors influencing sitosterolemia.
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