Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D356V
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LDLR

NM_000527.5:p.D356V

Associated Papers

Impact of the clinical diagnostic strata of familial hypercholesterolemia on risk stratification among patients with hypercholesterolemia.

Tada H et al.

Atherosclerosis, 2025

Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Nagahara K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.pdf

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

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene.

Nagahara K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019

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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."