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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.C27fs

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LDLR

NM_000527.5:p.C27fs

hg38:chr19:11100234 TGC>N

Associated Papers

Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.

Aliosaitiene U et al.

Journal of Cardiovascular Development and Disease, 2025

40422968 (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."