Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V550delFs
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LDLR

NM_000527.5:p.V550delFs

Associated Papers

Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Chae JJ et al.

Clinical Genetics, 1999

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

Jensen HK et al.

Clinical Chemistry, 1996

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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."