Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H250Q
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LDLR

NM_000527.5:p.H250Q

Associated Papers

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf
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