Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.K45R
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FDFT1

NM_004462.5:p.K45R

Associated Papers

Lanosterol reverses protein aggregation in cataracts.

Zhao L et al.

Nature, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain

Role of squalene synthase in prostate cancer risk and the biological aggressiveness of human prostate cancer.

Fukuma Y et al.

Prostate Cancer and Prostatic Diseases, 2012

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

Do R et al.

Human Mutation, 2008

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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."