Diagnostic challenge of an APOB variant of uncertain significance resolved by transheterozygosity with a pathological LDLR variant and clinical response to therapy-Reference-Cited by-同舟云学术

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Diagnostic challenge of an APOB variant of uncertain significance resolved by transheterozygosity with a pathological LDLR variant and clinical response to therapy

Published:2024-03 Issue: Volume:390 Page:117460
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Schlegel Amnon^ORCID

Publisher

Elsevier BV

Reference9 articles.

1. Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease;Junna;Atherosclerosis,2023

2. ClinVar: improvements to accessing data;Landrum;Nucleic Acids Res.,2020

3. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing;Lombardi;J. Lipid Res.,1995

4. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia;Vandrovcova;Genet. Med.,2013

5. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria;Nykamp;Genet. Med.,2017

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