Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.T404P
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LDLR

NM_000527.5:p.T404P

Associated Papers

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.

Aliosaitiene U et al.

Journal of Cardiovascular Development and Disease, 2025

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

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

Brusgaard K et al.

Clinical Genetics, 2006

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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."