Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A521T
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LDLR

NM_000527.5:p.A521T

Associated Papers

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 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

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Identification of two novel LDLR variants by Next Generation Sequencing.

Moffa S et al.

Annali Dell'istituto Superiore Di Sanita, 0

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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."