Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L802F
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LDLR

NM_000527.5:p.L802F

Associated Papers

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.

Gratton J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

37409534 (PubMed )
Supplement: atv-43-1737-s001.pdf

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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