Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.Y4343delFs
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APOB

NM_000384.3:p.Y4343delFs

Associated Papers

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ et al.

International Journal of Molecular Sciences, 2022

Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.

Martin AC et al.

Journal of Paediatrics and Child Health, 2022

Implementing genomic screening in diverse populations.

Abul-Husn NS et al.

Genome Medicine, 2021

33546753 (PubMed )
Supplement: 13073_2021_832_MOESM1_ESM.pdf

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-3.xlsx › Sheet1

Molecular description of familial defective APOB-100 in Malaysia.

Al-Khateeb AR et al.

Biochemical Genetics, 2013

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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."