Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.M652delFs
Back to variants list

LDLR

NM_000527.5:p.M652delFs

Associated Papers

A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.

Lin CF et al.

Journal of Clinical Lipidology, 2026

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

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.

Hsiung YC et al.

Atherosclerosis, 2018

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

Pek SLT et al.

Atherosclerosis, 2018

Mutation detection in Chinese patients with familial hypercholesterolemia.

Du R et al.

Springerplus, 2016

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ et al.

Atherosclerosis, 2012

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR et al.

Atherosclerosis, 2011

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."