Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F403fs
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LDLR

NM_000527.5:p.F403fs

Associated Papers

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

Huang MN et al.

Lipids in Health and Disease, 2024

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.

Zhao PJ et al.

Cjc Open, 2019

32159113 (PubMed )
Supplement: mmc1.pdf

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."