Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S65insFs
Back to variants list

LDLR

NM_000527.5:p.S65insFs

Associated Papers

Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.

Yuan Y et al.

Frontiers in Genetics, 2025

40534843 (PubMed )
Supplement: Table2.xlsx › Sheet2

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

Huang YX et al.

Frontiers in Genetics, 2021

Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.

Korneva V et al.

Atherosclerosis. Supplements, 2017

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY et al.

Bmc Medical Genetics, 2013

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Komarova TY et al.

Genetika, 2013

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Korneva VA et al.

Kardiologiia, 2013

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."