Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P105Splc
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LDLR

NM_000527.5:p.P105Splc

Associated Papers

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Gandhi GD et al.

Journal of Translational Medicine, 2022

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.

Diboun I et al.

Frontiers in Genetics, 2022

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

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