Varaico: Literature-Extracted Genetic Variants

Gene:TAF15
Variant:p.R395Q
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TAF15

NM_139215.3:p.R395Q

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

EWSR1, a multifunctional protein, regulates cellular function and aging via genetic and epigenetic pathways.

Lee J et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

Genetic mutations in RNA-binding proteins and their roles in ALS.

Kapeli K et al.

Human Genetics, 2017

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

Kenna KP et al.

Human Mutation, 2013

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation.

Budini M et al.

Brain Research, 2012

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."