Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K223_D227ins1
Back to variants list

LDLR

NM_000527.5:p.K223_D227ins1

Associated Papers

Predictable and precise template-free CRISPR editing of pathogenic variants.

Shen MW et al.

Nature, 2018

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Dedoussis GV et al.

Human Mutation, 2004

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Bochmann H et al.

Human Mutation, 2001

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."