Varaico: Literature-Extracted Genetic Variants

Gene:RGN
Variant:p.S44_F45insFs
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RGN

NM_152869.4:p.S44_F45insFs

Associated Papers

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

Orrell RW et al.

Neurology, 1997

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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."