Varaico: Literature-Extracted Genetic Variants

Gene:TAF15
Variant:p.A31T
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TAF15

NM_139215.3:p.A31T

Associated Papers

TAF15 amyloid filaments in frontotemporal lobar degeneration.

Tetter S et al.

Nature, 2024

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

Bagyinszky E et al.

Cells, 2023

Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS.

Milicevic K et al.

Frontiers in Cell and Developmental 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

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T1

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

The genetics and neuropathology of amyotrophic lateral sclerosis.

Al-Chalabi A et al.

Acta Neuropathologica, 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."