Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P526T
Back to variants list

LDLR

NM_000527.5:p.P526T

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

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

Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia.

Lewandowski P et al.

Polskie Archiwum Medycyny Wewnetrznej, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."