Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V119A
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SOD1

NM_000454.5:p.V119A

Associated Papers

Computing disease-linked SOD1 mutations: deciphering protein stability and patient-phenotype relations.

Kumar V et al.

Scientific Reports, 2017

Computing stability effects of mutations in human superoxide dismutase 1.

Kepp KP

The Journal of Physical Chemistry. B, 2014

Early steps in thermal unfolding of superoxide dismutase 1 are similar to the conformational changes associated with the ALS-associated A4V mutation.

Schmidlin T et al.

Protein Engineering, Design & Selection : Peds, 2013

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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."