Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K376*
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LDLR

NM_000527.5:p.K376*

Associated Papers

[Familial hypercholesterolemia caused by compound heterozygous variants in the LDLR gene: a case report].

Wang KX et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2025

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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."