Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C46*
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LDLR

NM_000527.5:p.C46*

Associated Papers

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

Huang MN et al.

Lipids in Health and Disease, 2024

39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM1_ESM.xlsx › Sheet1

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

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

Chater R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

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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."