Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D136Y
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LDLR

NM_000527.5:p.D136Y

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

Molecular diagnosis methods in familial hypercholesterolemia.

Moldovan V et al.

Anatolian Journal of Cardiology, 2020

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Gabčová D et al.

Physiological Research, 2017

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