Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G396Splc
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LDLR

NM_000527.5:p.G396Splc

Associated Papers

Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.

Liang KW et al.

Scientific Reports, 2026

Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Lee WJ et al.

Genes, 2021

Familial hypercholesterolemia in Southeast and East Asia.

Jackson CL et al.

American Journal of Preventive Cardiology, 2021

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.

Hsiung YC et al.

Atherosclerosis, 2018

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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."