Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.T274delFs
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LDLR

NM_000527.5:p.T274delFs

Associated Papers

Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

Lordfard S et al.

Cjc Open, 2025

41542120 (PubMed )
Supplement: mmc1.pdf

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease.

Maamari DJ et al.

Jacc. Advances, 2022

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

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

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Oetjens MT et al.

Nature Communications, 2019

31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.

Zhao PJ et al.

Cjc Open, 2019

32159113 (PubMed )
Supplement: mmc1.pdf
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