Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F629_S630delins
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LDLR

NM_000527.5:p.F629_S630delins

Associated Papers

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Oommen D et al.

Frontiers in Genetics, 2020

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.

Shu H et al.

Plos One, 2017

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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."