Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.R514G
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IGFALS

NM_004970.3:p.R514G

Associated Papers

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.

Brenner D et al.

Neurogenetics, 2022

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

King A et al.

Acta Neuropathologica Communications, 2015

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany.

Waibel S et al.

European Journal of Neurology, 2013

FUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS.

Niu C et al.

Plos One, 2012

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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."