Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.I764fs
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LDLR

NM_000527.5:p.I764fs

Associated Papers

Improving Familial Hypercholesterolemia Detection Through Implementation of Nurse-led Cascade Screening.

McCarron EP et al.

British Journal of Hospital Medicine (london, England : 2005), 2025

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

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

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