Varaico: Literature-Extracted Genetic Variants

Gene:TAF15
Variant:p.D386N
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TAF15

NM_139215.3:p.D386N

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

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

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

Kenna KP et al.

Human Mutation, 2013

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."