Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D601N
Back to variants list

LDLR

NM_000527.5:p.D601N

Associated Papers

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.

Jiang L et al.

Atherosclerosis, 2017

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

[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].

Dai YF et al.

Yi Chuan = Hereditas, 2011

[The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].

Voevoda MI et al.

Genetika, 2008

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Zakharova FM et al.

Genetika, 2007

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Zakharova FM et al.

Bmc Medical Genetics, 2005

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."