Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H583delFs
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LDLR

NM_000527.5:p.H583delFs

Associated Papers

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Yazıcı H et al.

Journal of Clinical Lipidology, 2025

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.

Yazıcı H et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."