Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K225insFs
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LDLR

NM_000527.5:p.K225insFs

Associated Papers

Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Bioinformatics (oxford, England), 2024

38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf

Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Biorxiv : the Preprint Server for Biology, 2023

36865234 (PubMed )
Supplement: media-1.pdf

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

Mollaki V et al.

Atherosclerosis, 2014

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

Mollaki V et al.

Annals of Human Genetics, 2013

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