Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y400*
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LDLR

NM_000527.5:p.Y400*

Associated Papers

Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.

Ullah MF et al.

Biomolecules & Biomedicine, 2026

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

35631530 (PubMed )
Supplement: pharmaceutics-14-00944-s001.zip › pharmaceutics-1634615-supplementary.pdf

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

[Homozygous hypercholesterolemia - new therapeutic options in cases with complete lack of LDL- receptor].

Mellwig KP et al.

Deutsche Medizinische Wochenschrift (1946), 2016

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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."