Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G314Splc
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LDLR

NM_000527.5:p.G314Splc

Associated Papers

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 Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Kim JH et al.

Molecules and Cells, 2004

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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."