Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S493C
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LDLR

NM_000527.5:p.S493C

Associated Papers

New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.

Iannuzzo G et al.

Frontiers in Endocrinology, 2024

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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."