Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V273Splc
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LDLR

NM_000527.5:p.V273Splc

Associated Papers

Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

Gene panel for Mendelian strokes.

Fang F et al.

Stroke and Vascular Neurology, 2020

32341005 (PubMed )
Supplement: svn-2020-000352supp003.pdf

The therapeutic effect of liver transplantation in 14 children with homozygous familial hypercholesterolemia: A prospective cohort: Liver transplant for familial hypercholesterolemia.

Lin D et al.

Journal of Clinical Lipidology, 0

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