Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.M652fs
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LDLR

NM_000527.5:p.M652fs

Associated Papers

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Huang MN et al.

Lipids in Health and Disease, 2024

39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM1_ESM.xlsx › Sheet1

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

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Pek SLT et al.

Atherosclerosis, 2018

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ et al.

Atherosclerosis, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."