Varaico: Literature-Extracted Genetic Variants

Gene:LRP1
Variant:p.Y4054F
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LRP1

NM_002332.3:p.Y4054F

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.

Suzuki T et al.

Endocrine Journal, 2024

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Chen S et al.

Human Genomics, 2022

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.

Shim YJ et al.

Pediatric Blood & Cancer, 2018

Gene screening facilitates diagnosis of complicated symptoms: A case report.

Duan H et al.

Molecular Medicine Reports, 2017

Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.

Pawlikowski JS et al.

The Journal of Investigative Dermatology, 2015

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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."