Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L64Splc
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LDLR

NM_000527.5:p.L64Splc

Associated Papers

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.

López G et al.

Atherosclerosis, 2018

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Al-Khateeb A et al.

Bmc Medical Genetics, 2011

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Tamayo ML et al.

Genetic Counseling (geneva, Switzerland), 2008

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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."