Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G676A
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LDLR

NM_000527.5:p.G676A

Associated Papers

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

Kholaif N et al.

Atherosclerosis, 2025

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Awan ZA et al.

Frontiers in Medicine, 2021

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

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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."