Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q254*
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LDLR

NM_000527.5:p.Q254*

Associated Papers

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM et al.

Circulation. Cardiovascular Genetics, 2016

27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf

Mutation detection in Chinese patients with familial hypercholesterolemia.

Du R et al.

Springerplus, 2016

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.

Jiang L et al.

Journal of Clinical Lipidology, 0

The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.

Sánchez-Hernández RM et al.

Journal of Clinical Lipidology, 0

The therapeutic effect of liver transplantation in 14 children with homozygous familial hypercholesterolemia: A prospective cohort: Liver transplant for familial hypercholesterolemia.

Lin D 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."