Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F619I
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LDLR

NM_000527.5:p.F619I

Associated Papers

Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

Shum BOV et al.

Clinical Chemistry, 2023

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Paththinige CS et al.

Lipids in Health and Disease, 2018

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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."