Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W562_N564delFs
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LDLR

NM_000527.5:p.W562_N564delFs

Associated Papers

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.

Glotov OS et al.

Journal of Personalized Medicine, 2023

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY et al.

Bmc Medical Genetics, 2013

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