Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E258K
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LDLR

NM_000527.5:p.E258K

Associated Papers

Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.

Nielsen SK et al.

Jacc. Advances, 2023

38938358 (PubMed )
Supplement: mmc1.docx

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC et al.

European Journal of Immunology, 2009

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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."