Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A475T
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LDLR

NM_000527.5:p.A475T

Associated Papers

Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.

Dzhumaniiazova IK et al.

Frontiers in Genetics, 2025

40927359 (PubMed )
Supplement: Table2.xlsx › Table_S2

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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