Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K617delFs
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LDLR

NM_000527.5:p.K617delFs

Associated Papers

Early mortality in children with homozygous familial hypercholesterolemia: Case reports of deaths at ages 5 and 7 and a systematic review of global evidence.

Khan M et al.

Journal of Clinical Lipidology, 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

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

Gautschi M et al.

Jimd Reports, 2012

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