Varaico: Literature-Extracted Genetic Variants

Gene:SOD3
Variant:p.R220L
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SOD3

NM_003102.4:p.R220L

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 692.274

Extracellular superoxide dismutase (EC-SOD) gene mutations screening in a sample of Mediterranean population.

Campo S et al.

Mutation Research, 2005

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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."