Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C255Y
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LDLR

NM_000527.5:p.C255Y

Associated Papers

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M et al.

Metabolism: Clinical and Experimental, 2016

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Sabarinathan R et al.

Human Mutation, 2013

23315997 (PubMed )
Supplement: humu0034-0546-SD1.pdf

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC et al.

European Journal of Immunology, 2009

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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."