Varaico: Literature-Extracted Genetic Variants

Gene:TAF15
Variant:p.R388H
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TAF15

NM_139215.3:p.R388H

Associated Papers

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

The clinical and radiological profile of primary lateral sclerosis: a population-based study.

Finegan E et al.

Journal of Neurology, 2019

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

A yeast functional screen predicts new candidate ALS disease genes.

Couthouis J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

Ticozzi N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011

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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."