Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G676fs
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LDLR

NM_000527.5:p.G676fs

Associated Papers

The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.

Alshahrani A et al.

Advances in Therapy, 2024

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Awan ZA et al.

Current Opinion in Lipidology, 2019

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.

Morad FA et al.

Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018

Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Almigbal TH et al.

Acta Biochimica Polonica, 2018

Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.

Al-Allaf FA et al.

Genomics, 2016

Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.

Alsagheir A et al.

Journal of Clinical Lipidology, 0

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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."