Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L802fs
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LDLR

NM_000527.5:p.L802fs

Associated Papers

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

Yazıcı H et al.

Journal of Clinical Lipidology, 2025

Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

He L et al.

Genes & Genomics, 2025

Case Report: Difficulties in the Treatment of a 12-Year-Old Patient With Homozygous Familial Hypercholesterolemia, Compound Heterozygous Form - 5 Years Follow-Up.

Vladimirova-Kitova L et al.

Frontiers in Cardiovascular Medicine, 2021

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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."