Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H250R
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LDLR

NM_000527.5:p.H250R

Associated Papers

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS7_tiling_screen.xlsx › TableSX_tiling_screen

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Nurm M et al.

Frontiers in Genetics, 2022

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Alver M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30270359 (PubMed )
Supplement: 41436_2018_311_MOESM5_ESM.pdf
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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."