Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F402delFs
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LDLR

NM_000527.5:p.F402delFs

Associated Papers

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

He L et al.

Genes & Genomics, 2025

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Huang MN et al.

Lipids in Health and Disease, 2024

Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX et al.

Journal of Translational Medicine, 2018

30526649 (PubMed )
Supplement: 12967_2018_1737_MOESM1_ESM.pdf
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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."