Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.T11A
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LDLR

NM_000527.5:p.T11A

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Mapping the sclerostin-LRP4 binding interface identifies critical interaction hotspots in loops 1 and 3 of sclerostin.

Katchkovsky S et al.

Febs Letters, 2025

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 › TableS8_features_full_struc.xlsx › in

Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.

Tao YX et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

Höning S et al.

The Embo Journal, 1998

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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."