Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R78fs
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LDLR

NM_000527.5:p.R78fs

Associated Papers

Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

Lordfard S et al.

Cjc Open, 2025

41542120 (PubMed )
Supplement: mmc1.pdf

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13
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