Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F629fs
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LDLR

NM_000527.5:p.F629fs

Associated Papers

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Mehta R et al.

Journal of Lipid Research, 2016

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE et al.

Atherosclerosis, 2015

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.

Santos PC et al.

Atherosclerosis, 2014

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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."