Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P757delFs
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LDLR

NM_000527.5:p.P757delFs

Associated Papers

Homozygous familial hypercholesterolemia with cutaneous xanthomas in a child.

Arora P et al.

International Journal of Dermatology, 2022

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

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Bourbon M et al.

Atherosclerosis, 2017

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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."