Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.I419delins
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ABCG8

NM_022437.3:p.I419delins

Associated Papers

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Hashimoto N et al.

Human Genome Variation, 2020

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Pek SLT et al.

Atherosclerosis, 2018

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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."