Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.V627I
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APOB

NM_000384.3:p.V627I

Associated Papers

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.

Jingxin S et al.

Molecular Genetics & Genomic Medicine, 2022

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Sun D et al.

Lipids in Health and Disease, 2018

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

Chiou KR et al.

Journal of Clinical Lipidology, 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."