Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R124delFs
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LDLR

NM_000527.5:p.R124delFs

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Rieck L et al.

Clinical Genetics, 2020

Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications.

Kındış E et al.

Journal of Clinical Lipidology, 0

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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."