Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E228D
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LDLR

NM_000527.5:p.E228D

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_5.xlsx › SuppData_5

Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.

Rodríguez-Jiménez C et al.

Human Mutation, 2019

Unusual genetic variants associated with hypercholesterolemia in Argentina.

Corral P et al.

Atherosclerosis, 2018

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

Bañares VG 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."