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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.N625K

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LDLR

NM_000527.5:p.N625K

hg38:chr19:11120121 C>A

Associated Papers

Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.

Reimund M et al.

Nature, 2025

39663455 (PubMed )

Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.

Wang M et al.

Molecular Biology Reports, 2024

38236436 (PubMed )

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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."