Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.P112L
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TARDBP

NM_007375.4:p.P112L

Associated Papers

Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).

Gotte G

Genes, 2024

The secretion of the angiogenic and neurotrophic factor angiogenin is COPII and microtubule dependent.

Ferguson R et al.

Experimental Cell Research, 2019

Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis.

Padhi AK et al.

Febs Letters, 2013

Prediction of functional loss of human angiogenin mutants associated with ALS by molecular dynamics simulations.

Padhi AK et al.

Scientific Reports, 2013

Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis.

Padhi AK et al.

Plos One, 2012

Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons.

Thiyagarajan N et al.

Nature Communications, 2012

Targeting angiogenin in therapy of amyotropic lateral sclerosis.

Kishikawa H et al.

Expert Opinion on Therapeutic Targets, 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."