Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G529Splc
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LDLR

NM_000527.5:p.G529Splc

Associated Papers

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

Martin R et al.

Atherosclerosis, 2016

Universal Screening for Familial Hypercholesterolemia in Children.

Klančar G et al.

Journal of the American College of Cardiology, 2015

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM et al.

Hormone Research in Paediatrics, 2011

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

Maruyama T et al.

Journal of Atherosclerosis and Thrombosis, 2004

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Yu W et al.

Atherosclerosis, 2002

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Setia N et al.

Journal of Clinical Lipidology, 0

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Reddy LL et al.

Indian Heart Journal, 0

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