Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.W116C
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RRM2

NM_001034.4:p.W116C

Associated Papers

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E et al.

Nature Genetics, 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."