Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E174*
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LDLR

NM_000527.5:p.E174*

Associated Papers

Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

Aparicio A et al.

Journal of Clinical Medicine, 2023

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
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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."