Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H211D
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LDLR

NM_000527.5:p.H211D

Associated Papers

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Melo M et al.

International Journal of Molecular Sciences, 2025

40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.

Medeiros AM et al.

Journal of Lipid Research, 2024

LDLR variants functional characterization: Contribution to variant classification.

Alves AC et al.

Atherosclerosis, 2021

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
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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."