Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S444insFs
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LDLR

NM_000527.5:p.S444insFs

Associated Papers

Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.

Kholaif N et al.

Atherosclerosis, 2025

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Souter V et al.

Circulation. Genomic and Precision Medicine, 2024

38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx

Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia.

Al-Nbaheen MS

Acta Biochimica Polonica, 2023

Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.

Kholaif N et al.

Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace, 2023

Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.

Mahzari M et al.

Advances in Therapy, 2021

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

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.

Al-Allaf FA et al.

Acta Biochimica Polonica, 2017

The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

Alallaf F et al.

The Open Cardiovascular Medicine Journal, 2017

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

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.

Al-Allaf FA et al.

Human Genome Variation, 2014

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."